The c.1810C>T variant in ATM is a missense variant predicted to cause substitution of proline by serine at amino acid 604 (p.Pro604Ser). The filtering allele frequency (the lower threshold of the 95% CI of 71/6026) of the c.1810C>T variant in ATM is 0.009580 for the Middle Eastern chromosomes by gnomAD v4.1.0, which is higher than the HBOP VCEP threshold (>0.005) for BA1, and therefore meets this criterion. The computational predictor REVEL gives a score of 0.379, which is neither above nor below the thresholds predicting a damaging or benign impact on ATM function. In summary, this variant meets the criteria to be classified as benign for autosomal dominant ATM-related cancer predisposition and autosomal recessive Ataxia-Telangiectasia based on the ACMG/AMP criteria applied as specified by the HBOP VCEP. (BA1)
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser)
Germline
Reviewed by expert panel
Help
Reviewed by expert panel. Learn more about how ClinVar calculates review status.
Benign
for
ATM-related cancer predisposition
Classification is based on the expert panel submission
Nov 2025 by
ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Va…
Help
FDA Recognized Database
The classification is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser)
Variation ID: 127343 Accession: VCV000127343.101
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 11q22.3 11: 108252824 (GRCh38) [ NCBI UCSC ] 11: 108123551 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Jun 9, 2014 Jul 27, 2026 Nov 11, 2025 - HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_000051.4:c.1810C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000042.3:p.Pro604Ser missense NM_001351834.2:c.1810C>T NP_001338763.1:p.Pro604Ser missense NC_000011.10:g.108252824C>T NC_000011.9:g.108123551C>T NG_009830.1:g.34993C>T LRG_135:g.34993C>T LRG_135t1:c.1810C>T LRG_135p1:p.Pro604Ser - Protein change
- P604S
- Other names
-
p.P604S:CCT>TCT
NP_000042.3:p.Pro604Ser
NM_000051.4(ATM):c.1810C>T
- Canonical SPDI
- NC_000011.10:108252823:C:T
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
-
0.00260 (T)
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
-
The Genome Aggregation Database (gnomAD), exomes 0.00319
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00400
The Genome Aggregation Database (gnomAD) 0.00431
The Genome Aggregation Database (gnomAD), exomes 0.00190
1000 Genomes Project 0.00260
1000 Genomes Project 30x 0.00312
The Genome Aggregation Database (gnomAD) 0.00403
Exome Aggregation Consortium (ExAC) 0.00309
Trans-Omics for Precision Medicine (TOPMed) 0.00484
- Links
Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
|---|---|---|---|---|---|---|
| HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
| ATM | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
12312 | 19837 | |
Conditions - Germline
| Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
|---|---|---|---|---|
| Benign/Likely benign (7) |
criteria provided, multiple submitters, no conflicts
|
Jul 14, 2025 | RCV000115147.24 | |
| Benign/Likely benign (10) |
criteria provided, multiple submitters, no conflicts
|
Aug 22, 2025 | RCV000120119.37 | |
| Conflicting classifications of pathogenicity (8) |
criteria provided, conflicting classifications
|
Feb 4, 2026 | RCV000122824.45 | |
| Benign/Likely benign (8) |
criteria provided, multiple submitters, no conflicts
|
Jun 1, 2026 | RCV000590282.60 | |
| Benign (3) |
criteria provided, multiple submitters, no conflicts
|
May 1, 2024 | RCV001197813.12 | |
| Conflicting classifications of pathogenicity (2) |
criteria provided, conflicting classifications
|
Apr 19, 2022 | RCV001374543.12 | |
| Likely benign (1) |
no assertion criteria provided
|
- | RCV001356948.10 | |
| Benign (1) |
criteria provided, single submitter
|
May 7, 2019 | RCV001798309.10 | |
|
ATM-related disorder
|
Benign (1) |
no assertion criteria provided
|
May 20, 2019 | RCV004549541.2 |
| Benign (1) |
reviewed by expert panel
|
Nov 11, 2025 | RCV006646412.1 |
Submissions - Germline
| Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
Expand all rows
Collapse all rows
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
|---|---|---|---|---|---|
|
Benign
(Nov 11, 2025)
C
Contributing to aggregate classification
|
reviewed by expert panel
|
ATM-related cancer predisposition
(Autosomal dominant inheritance)
|
ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Variant Curation Expert Panel, ClinGen
FDA Recognized Database
Accession: SCV007540164.1 First in ClinVar: Apr 12, 2026 Last updated: Apr 12, 2026 |
Comment:
show
The c.1810C>T variant in ATM is a missense variant predicted to cause substitution of proline by serine at amino acid 604 (p.Pro604Ser). The filtering allele frequency (the lower threshold of the 95% CI of 71/6026) of the c.1810C>T variant in ATM is 0.009580 for the Middle Eastern chromosomes by gnomAD v4.1.0, which is higher than the HBOP VCEP threshold (>0.005) for BA1, and therefore meets this criterion. The computational predictor REVEL gives a score of 0.379, which is neither above nor below the thresholds predicting a damaging or benign impact on ATM function. In summary, this variant meets the criteria to be classified as benign for autosomal dominant ATM-related cancer predisposition and autosomal recessive Ataxia-Telangiectasia based on the ACMG/AMP criteria applied as specified by the HBOP VCEP. (BA1) (less)
Observation: 1
Collection method: curation
Allele origin: germline
Affected status: unknown
Observation 1
Collection method: curation
Allele origin: germline
Affected status: unknown
|
|
|
Benign
(Jan 06, 2020)
N
Not contributing to aggregate classification
|
criteria provided, single submitter
|
not specified |
Dubai Health Genomic Medicine Center, Dubai Health
Accession: SCV001984666.1
First in ClinVar: Oct 30, 2021 Last updated: Oct 30, 2021 |
Observation: 1
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Observation 1
Collection method: clinical testing
Allele origin: germline
Affected status: yes
|
|
|
Benign
(May 07, 2019)
N
Not contributing to aggregate classification
|
criteria provided, single submitter
|
Breast and/or ovarian cancer |
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario
Accession: SCV002043512.1
First in ClinVar: Jan 03, 2022 Last updated: Jan 03, 2022 |
Observation: 1
Collection method: clinical testing
Allele origin: germline
Affected status: unknown
Observation 1
Collection method: clinical testing
Allele origin: germline
Affected status: unknown
|
|
|
Benign
(Jun 10, 2020)
N
Not contributing to aggregate classification
|
criteria provided, single submitter
|
Hereditary cancer-predisposing syndrome |
Sema4, Sema4
Accession: SCV002533375.1
First in ClinVar: Jun 24, 2022 Last updated: Jun 24, 2022 |
Observation: 1
Collection method: curation
Allele origin: germline
Affected status: unknown
Observation 1
Collection method: curation
Allele origin: germline
Affected status: unknown
|
|
|
Likely benign
(Jul 02, 2018)
N
Not contributing to aggregate classification
|
criteria provided, single submitter
|
Ataxia-telangiectasia syndrome |
Mendelics
Accession: SCV000838494.2
First in ClinVar: Oct 10, 2018 Last updated: Dec 11, 2022 |
Observation: 1
Collection method: clinical testing
Allele origin: unknown
Affected status: unknown
Observation 1
Collection method: clinical testing
Allele origin: unknown
Affected status: unknown
|
|
|
Benign
(May 07, 2021)
N
Not contributing to aggregate classification
|
criteria provided, single submitter
|
not specified |
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV002047276.2
First in ClinVar: Jan 03, 2022 Last updated: Dec 31, 2022 |
Observation: 1
Collection method: clinical testing
Allele origin: unknown
Affected status: unknown
Observation 1
Collection method: clinical testing
Allele origin: unknown
Affected status: unknown
|
|
|
Benign
(May 01, 2024)
N
Not contributing to aggregate classification
|
criteria provided, single submitter
|
Familial cancer of breast |
Myriad Genetics, Inc.
Accession: SCV005083857.1
First in ClinVar: Jul 23, 2024 Last updated: Jul 23, 2024 |
Comment:
show
This variant is considered benign. This variant is strongly associated with less severe personal and family histories of cancer, typical for individuals without pathogenic variants in this gene [PMID: 25085752]. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance. (less)
Observation: 1
Collection method: clinical testing
Allele origin: unknown
Affected status: unknown
Observation 1
Collection method: clinical testing
Allele origin: unknown
Affected status: unknown
|
|
|
Likely benign
(Sep 15, 2015)
N
Not contributing to aggregate classification
|
criteria provided, single submitter
|
not specified |
Eurofins Ntd Llc (ga)
Accession: SCV000225475.6
First in ClinVar: Jun 29, 2015 Last updated: Apr 13, 2025 |
Observation: 1
Collection method: clinical testing
Allele origin: germline
Affected status: unknown
Observation 1
Collection method: clinical testing
Allele origin: germline
Affected status: unknown
Number of individuals with the variant: 2
Zygosity: 2 Single Heterozygotes
Sex: mixed
|
|
|
Benign
(May 18, 2021)
N
Not contributing to aggregate classification
|
criteria provided, single submitter
|
Ataxia-telangiectasia syndrome |
Genome-Nilou Lab
Accession: SCV001737226.2
First in ClinVar: Jun 19, 2021 Last updated: Apr 13, 2025 |
Observation 1
Collection method: clinical testing
Allele origin: germline
Affected status: no
Sex: mixed
|
|
|
Likely benign
(Jul 14, 2025)
N
Not contributing to aggregate classification
|
criteria provided, single submitter
|
Hereditary cancer-predisposing syndrome
(Autosomal dominant inheritance)
|
Dipartimento Di Medicina Di Precisione, Università Degli Studi Della Campania Luigi Vanvitelli
Accession: SCV006278065.1
First in ClinVar: Aug 09, 2025 Last updated: Aug 09, 2025 |
Comment:
show
The ATM:c.1810C>T (p.Pro604Ser) variant has been classified as likely benign based on an integrated analysis of computational predictors and ACMG/AMP criteria. In silico tools consistently indicate a minimal or no impact on protein function. Additionally, the variant is located in a non-highly conserved residue, and there is no available segregation, functional, or clinical evidence suggesting a pathogenic role. Although experimental data are lacking, the consistency of bioinformatic evidence and the absence of pathogenic features support the classification as likely benign, according to BS1 and BP4 criteria of the ACMG/AMP guidelines (adapted for the ATM gene). (less)
Observation: 1
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Observation 1
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Zygosity: 1 Single Heterozygote
Age: 40-49 years
Sex: female
Ethnicity/Population group: European
Geographic origin: Italy
|
|
|
Benign
(Jul 08, 2025)
N
Not contributing to aggregate classification
|
criteria provided, single submitter
|
Hereditary cancer-predisposing syndrome |
Laboratorio de I+D, Fundación Centro Médico de Asturias
Accession: SCV006550690.1
First in ClinVar: Oct 05, 2025 Last updated: Oct 05, 2025 |
Observation: 1
Collection method: clinical testing
Allele origin: germline
Affected status: unknown
Observation 1
Collection method: clinical testing
Allele origin: germline
Affected status: unknown
|
|
|
benign
(Aug 22, 2025)
N
Not contributing to aggregate classification
|
criteria provided, single submitter
|
not specified |
Athena Diagnostics
Accession: SCV001879379.2
First in ClinVar: Sep 19, 2021 Last updated: Jan 11, 2026 |
Comment:
show
The frequency of this variant in the general population (http://gnomad.broadinstitute.org) is higher than would generally be expected for pathogenic variants in this gene. Computational tools predict this amino acid change may be benign. (less)
Observation: 1
Collection method: clinical testing
Allele origin: unknown
Affected status: unknown
Observation 1
Collection method: clinical testing
Allele origin: unknown
Affected status: unknown
|
|
|
Benign
(Jun 02, 2025)
N
Not contributing to aggregate classification
|
criteria provided, single submitter
|
not provided |
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000602566.6
First in ClinVar: Mar 08, 2017 Last updated: Jan 24, 2026 |
Observation: 1
Collection method: clinical testing
Allele origin: germline
Affected status: unknown
Observation 1
Collection method: clinical testing
Allele origin: germline
Affected status: unknown
|
|
|
Benign
(Feb 04, 2026)
N
Not contributing to aggregate classification
|
criteria provided, single submitter
|
Ataxia-telangiectasia syndrome |
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000166081.16
First in ClinVar: Jun 15, 2014 Last updated: Feb 23, 2026 |
Observation: 1
Collection method: clinical testing
Allele origin: germline
Affected status: unknown
Observation 1
Collection method: clinical testing
Allele origin: germline
Affected status: unknown
|
|
|
Likely benign
(Jun 01, 2026)
N
Not contributing to aggregate classification
|
criteria provided, single submitter
|
not provided |
CeGaT Center for Human Genetics Tuebingen
Accession: SCV001371323.37
First in ClinVar: Jul 16, 2020 Last updated: Jul 27, 2026 |
Observation: 1
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Observation 1
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Number of individuals with the variant: 40
|
|
|
Benign
(May 09, 2016)
N
Not contributing to aggregate classification
|
criteria provided, single submitter
|
not provided |
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000694200.1
First in ClinVar: Mar 17, 2018 Last updated: Mar 17, 2018 |
Comment:
show
Variant summary: The ATM variant, c.1810C>T (p.Pro604Ser) causes a missense change involving a conserved nucleotide with 2/4 in silico programs (SNPs&GO not captured here due to low reliability index) predict a "benign" outcome, although these predictions have yet to be functionally assessed. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 345/111640 (1/323 including 5 homozygotes), which significantly exceeds the estimated maximum expected allele frequency for a pathogenic ATM variant of 1/2000 for Breast Cancer. Therefore, suggesting the variant is a common polymorphism. The variant of interest has been reported in multiple affected individuals via publications with varying phenotypes (BrC, Lynch syndrome, B-CLL, PrC, lymphoma, Hodgkin's disease), including one individual dx with A-T that harbored this variant and another ATM variant, c.6482G>C (p.Arg2161Pro - not yet scored) and was indicated to have absent ATM protein. Two internal LCA samples (adult patients with unknown phenotypes) carried c.1810C>T variant with another pathogenic variants: 1 with a BRIP1 variant, c.440dupA (Tyr147X - classified likely pathogenic) and 1 with an ATM variant, c.1027_1030delGAAA (p.Glu343fsX2 - classified pathogenic). In addition, multiple reputable clinical laboratories cite the variant with a classification of "likely benign/benign." Therefore, taking all available information into consideration for the phenotype of Breast Cancer, the variant of interest is classified as Benign. (less)
Observation: 1
Collection method: clinical testing
Allele origin: germline
Affected status: unknown
Observation 1
Collection method: clinical testing
Allele origin: germline
Affected status: unknown
|
|
|
Benign
(May 26, 2017)
N
Not contributing to aggregate classification
|
criteria provided, single submitter
|
not specified |
GeneDx
Accession: SCV000149056.5
First in ClinVar: May 17, 2014 Last updated: Apr 09, 2018 |
Comment:
show
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. (less)
Observation: 1
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Observation 1
Collection method: clinical testing
Allele origin: germline
Affected status: yes
|
|
|
Likely benign
(Jun 16, 2015)
N
Not contributing to aggregate classification
|
criteria provided, single submitter
|
Ataxia-telangiectasia syndrome |
Genome Diagnostics Laboratory, University Medical Center Utrecht
Study: VKGL Data-share Consensus
Accession: SCV000743721.1 First in ClinVar: Dec 26, 2017 Last updated: Dec 26, 2017 |
Observation: 1
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Observation 1
Collection method: clinical testing
Allele origin: germline
Affected status: yes
|
|
|
Uncertain significance
(Jun 28, 2016)
N
Not contributing to aggregate classification
|
criteria provided, single submitter
|
Ataxia-telangiectasia syndrome |
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Study: VKGL Data-share Consensus
Accession: SCV000745123.1 First in ClinVar: Dec 26, 2017 Last updated: Dec 26, 2017 |
Observation: 1
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Observation 1
Collection method: clinical testing
Allele origin: germline
Affected status: yes
|
|
|
Uncertain significance
(Jan 12, 2018)
N
Not contributing to aggregate classification
|
criteria provided, single submitter
|
Ataxia-telangiectasia syndrome |
Illumina Laboratory Services, Illumina
Accession: SCV001266060.1
First in ClinVar: May 31, 2020 Last updated: May 31, 2020 |
Comment:
show
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. (less)
Observation: 1
Collection method: clinical testing
Allele origin: germline
Affected status: unknown
Observation 1
Collection method: clinical testing
Allele origin: germline
Affected status: unknown
|
|
|
Benign
(Dec 14, 2018)
N
Not contributing to aggregate classification
|
criteria provided, single submitter
|
not specified |
Genetic Services Laboratory, University of Chicago
Accession: SCV000246612.2
First in ClinVar: Oct 05, 2015 Last updated: Jun 13, 2020 |
Observation: 1
Collection method: clinical testing
Allele origin: germline
Affected status: no
Observation 1
Collection method: clinical testing
Allele origin: germline
Affected status: no
|
|
|
Uncertain significance
(Aug 01, 2020)
N
Not contributing to aggregate classification
|
criteria provided, single submitter
|
Hereditary breast ovarian cancer syndrome |
Molecular Oncology Research Center, Barretos Cancer Hospital
Accession: SCV001438622.1
First in ClinVar: Apr 24, 2021 Last updated: Apr 24, 2021 |
Observation 1
Collection method: research
Allele origin: germline
Affected status: yes
Number of individuals with the variant: 1
Clinical Features:
breast cancer (present)
Test name: whole exome sequencing
Platform type: NGS
|
|
|
Benign
(Nov 08, 2018)
N
Not contributing to aggregate classification
|
criteria provided, single submitter
|
Familial cancer of breast |
Centre for Mendelian Genomics, University Medical Centre Ljubljana
Accession: SCV001368593.2
First in ClinVar: Jul 04, 2020 Last updated: Jul 04, 2020 |
Comment:
show
This variant was classified as: Benign. The following ACMG criteria were applied in classifying this variant: BS1,BS2. (less)
Observation: 1
Collection method: clinical testing
Allele origin: unknown
Affected status: yes
Observation 1
Collection method: clinical testing
Allele origin: unknown
Affected status: yes
|
|
|
Benign
(Nov 30, 2020)
N
Not contributing to aggregate classification
|
criteria provided, single submitter
|
Hereditary cancer-predisposing syndrome |
Color Diagnostics, LLC DBA Color Health
Accession: SCV000537384.2
First in ClinVar: Mar 08, 2017 Last updated: Jun 19, 2021 |
Observation: 1
Collection method: clinical testing
Allele origin: germline
Affected status: unknown
Observation 1
Collection method: clinical testing
Allele origin: germline
Affected status: unknown
Platform type: NGS
|
|
|
Benign
(Jun 17, 2020)
N
Not contributing to aggregate classification
|
criteria provided, single submitter
|
Hereditary cancer-predisposing syndrome |
Spanish ATM Cancer Susceptibility Variant Interpretation Working Group
Accession: SCV001911496.1
First in ClinVar: Sep 24, 2021 Last updated: Sep 24, 2021 |
Comment:
show
The c.1810C>T (p.Pro604Ser) missense variant has an allele frequency of 0.32%, (895/281,544 alleles) in the gnomAD v2.1.1 non-cancer dataset, with a maximal frequency of 0.65%, (153/23,556 alleles) in the African subpopulation (BA1; http://gnomad.broadinstitute.org). Adapted ACMG/AMP rules applied as defined by the Spanish ATM working group: BA1 (+BS2_Supporting) (PMID: 33280026). (less)
Observation:
48
Observation 1
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Clinical Features:
Breast carcinoma (present)
Indication for testing: Breast cancer, susceptibility to
Zygosity: 1 Single Heterozygote
Ethnicity/Population group: European caucasoid
Testing laboratory: Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Vall d’Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain
Observation 2
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Clinical Features:
Ovarian cancer (present)
Indication for testing: Familial ovarian cancer
Zygosity: 1 Single Heterozygote
Ethnicity/Population group: European caucasoid
Testing laboratory: Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Vall d’Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain
Observation 3
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Clinical Features:
Breast carcinoma (present)
Indication for testing: Breast cancer, susceptibility to
Zygosity: 1 Single Heterozygote
Ethnicity/Population group: European caucasoid
Comment on evidence:
Carrier of an heterozygous pathogenic variant in BRCA2
Testing laboratory: Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Vall d’Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain
Observation 4
Collection method: clinical testing
Allele origin: germline
Affected status: no
Clinical Features:
No cancer (present)
Indication for testing: Breast cancer, susceptibility to
Zygosity: 1 Single Heterozygote
Ethnicity/Population group: European caucasoid
Testing laboratory: Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Vall d’Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain
Observation 5
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Clinical Features:
Breast carcinoma (present)
Indication for testing: Breast cancer, susceptibility to
Zygosity: 1 Single Heterozygote
Ethnicity/Population group: European caucasoid
Testing laboratory: Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Vall d’Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain
Observation 6
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Clinical Features:
Breast carcinoma (present)
Indication for testing: Breast cancer, susceptibility to
Zygosity: 1 Single Heterozygote
Ethnicity/Population group: European caucasoid
Testing laboratory: Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Vall d’Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain
Observation 7
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Clinical Features:
Breast carcinoma (present)
Indication for testing: Breast cancer, susceptibility to
Zygosity: 1 Single Heterozygote
Ethnicity/Population group: European caucasoid
Testing laboratory: Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Vall d’Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain
Observation 8
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Clinical Features:
Breast carcinoma (present) , Ovarian cancer (present)
Indication for testing: Breast cancer, susceptibility to
Zygosity: 1 Single Heterozygote
Ethnicity/Population group: European caucasoid
Testing laboratory: Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Vall d’Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain
Observation 9
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Clinical Features:
Thymus cancer (present) , Stomach GIST (present) , Gastrointestinal stromal tumor of small intestine (present)
Indication for testing: Familial medullary thyroid carcinoma, Gastrointestinal stromal tumor, familial
Zygosity: 1 Single Heterozygote
Ethnicity/Population group: European caucasoid
Testing laboratory: Molecular Diagnostics Laboratory, Hereditary Cancer Program, Catalan Institute of Oncology, Granvia de l’Hospitalet 199-203, 08908 L’Hospitalet de Llobregat, Barcelona, Spain
Observation 10
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Clinical Features:
Bilateral Breast carcinoma (present)
Indication for testing: Breast cancer, susceptibility to
Zygosity: 1 Single Heterozygote
Ethnicity/Population group: European caucasoid
Testing laboratory: Molecular Diagnostics Laboratory, Hereditary Cancer Program, Catalan Institute of Oncology, Granvia de l’Hospitalet 199-203, 08908 L’Hospitalet de Llobregat, Barcelona, Spain
Observation 11
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Clinical Features:
Infiltrating duct carcinoma of breast (present)
Indication for testing: Breast cancer, susceptibility to
Zygosity: 1 Single Heterozygote
Ethnicity/Population group: European caucasoid
Testing laboratory: Molecular Diagnostics Laboratory, Hereditary Cancer Program, Catalan Institute of Oncology, Granvia de l’Hospitalet 199-203, 08908 L’Hospitalet de Llobregat, Barcelona, Spain
Observation 12
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Clinical Features:
Colorectal cancer (present)
Indication for testing: Hereditary nonpolyposis colon cancer
Zygosity: 1 Single Heterozygote
Ethnicity/Population group: European caucasoid
Testing laboratory: Molecular Diagnostics Laboratory, Hereditary Cancer Program, Catalan Institute of Oncology, Granvia de l’Hospitalet 199-203, 08908 L’Hospitalet de Llobregat, Barcelona, Spain
Observation 13
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Clinical Features:
Neoplasm of stomach (present)
Indication for testing: Hereditary gastric cancer
Zygosity: 1 Single Heterozygote
Ethnicity/Population group: European caucasoid
Testing laboratory: Molecular Diagnostics Laboratory, Hereditary Cancer Program, Catalan Institute of Oncology, Granvia de l’Hospitalet 199-203, 08908 L’Hospitalet de Llobregat, Barcelona, Spain
Observation 14
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Clinical Features:
Breast carcinoma (present)
Indication for testing: Breast cancer, susceptibility to
Zygosity: 1 Single Heterozygote
Ethnicity/Population group: European caucasoid
Testing laboratory: Molecular Diagnostics Laboratory, Hereditary Cancer Program, Catalan Institute of Oncology, Granvia de l’Hospitalet 199-203, 08908 L’Hospitalet de Llobregat, Barcelona, Spain
Observation 15
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Clinical Features:
Bilateral breast cancer (present)
Indication for testing: Breast cancer, susceptibility to
Zygosity: 1 Homozygote
Ethnicity/Population group: European caucasoid
Testing laboratory: Molecular Diagnostics Laboratory, Hereditary Cancer Program, Catalan Institute of Oncology, Granvia de l’Hospitalet 199-203, 08908 L’Hospitalet de Llobregat, Barcelona, Spain
Observation 16
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Clinical Features:
Ovarian serous tumor (present)
Indication for testing: Familial ovarian cancer
Zygosity: 1 Single Heterozygote
Ethnicity/Population group: European caucasoid
Testing laboratory: Molecular Diagnostics Laboratory, Hereditary Cancer Program, Catalan Institute of Oncology, Granvia de l’Hospitalet 199-203, 08908 L’Hospitalet de Llobregat, Barcelona, Spain
Observation 17
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Clinical Features:
Breast carcinoma (present)
Indication for testing: Breast cancer, susceptibility to
Zygosity: 1 Single Heterozygote
Ethnicity/Population group: European caucasoid
Testing laboratory: Molecular Diagnostics Laboratory, Hereditary Cancer Program, Catalan Institute of Oncology, Granvia de l’Hospitalet 199-203, 08908 L’Hospitalet de Llobregat, Barcelona, Spain
Observation 18
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Clinical Features:
Tuberous Sclerosis. Specifically, cutaneous neurological, renal, lung and osseous lesions and mental retardation (present)
Indication for testing: Tuberous sclerosis and lymphangiomyomatosis
Zygosity: 1 Single Heterozygote
Ethnicity/Population group: European caucasoid
Comment on evidence:
Carrier of an heterozygous pathogenic variant in TSC2
Testing laboratory: Molecular Diagnostics Laboratory, Hereditary Cancer Program, Catalan Institute of Oncology, Granvia de l’Hospitalet 199-203, 08908 L’Hospitalet de Llobregat, Barcelona, Spain
Observation 19
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Clinical Features:
Colorectal polyposis (present)
Indication for testing: Peutz-Jeghers syndrome
Zygosity: 1 Single Heterozygote
Ethnicity/Population group: European caucasoid
Comment on evidence:
Carrier of an heterozygous likely pathogenic variant in STK11
Testing laboratory: Molecular Diagnostics Laboratory, Hereditary Cancer Program, Catalan Institute of Oncology, Granvia de l’Hospitalet 199-203, 08908 L’Hospitalet de Llobregat, Barcelona, Spain
Observation 20
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Clinical Features:
Breast carcinoma (present)
Indication for testing: Breast cancer, susceptibility to
Zygosity: 1 Single Heterozygote
Ethnicity/Population group: European caucasoid
Testing laboratory: Fundación Pública Galega Medicina Xenómica (FPGMX), SERGAS, 15706 Santiago de Compostela, Spain
Observation 21
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Clinical Features:
Breast carcinoma (present)
Indication for testing: Breast cancer, susceptibility to
Zygosity: 1 Single Heterozygote
Ethnicity/Population group: European caucasoid
Comment on evidence:
Carrier of an heterozygous pathogenic variant in PALB2
Testing laboratory: Molecular Diagnostics Laboratory, Hereditary Cancer Program, Catalan Institute of Oncology, Granvia de l’Hospitalet 199-203, 08908 L’Hospitalet de Llobregat, Barcelona, Spain
Observation 22
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Clinical Features:
Breast carcinoma (present)
Indication for testing: Breast cancer, susceptibility to
Zygosity: 1 Single Heterozygote
Ethnicity/Population group: European caucasoid
Testing laboratory: Molecular Diagnostics Laboratory, Hereditary Cancer Program, Catalan Institute of Oncology, Granvia de l’Hospitalet 199-203, 08908 L’Hospitalet de Llobregat, Barcelona, Spain
Observation 23
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Clinical Features:
Facial trichodiscomas, lung cysts (present)
Indication for testing: Multiple fibrofolliculomas
Zygosity: 1 Single Heterozygote
Ethnicity/Population group: European caucasoid
Comment on evidence:
Carrier of an heterozygous likely pathogenic variant in FLCN
Testing laboratory: Molecular Diagnostics Laboratory, Hereditary Cancer Program, Catalan Institute of Oncology, Granvia de l’Hospitalet 199-203, 08908 L’Hospitalet de Llobregat, Barcelona, Spain
Observation 24
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Clinical Features:
Bilateral breast cancer (present)
Indication for testing: Breast cancer, susceptibility to
Zygosity: 1 Single Heterozygote
Ethnicity/Population group: European caucasoid
Testing laboratory: Molecular Diagnostics Laboratory, Hereditary Cancer Program, Catalan Institute of Oncology, Granvia de l’Hospitalet 199-203, 08908 L’Hospitalet de Llobregat, Barcelona, Spain
Observation 25
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Clinical Features:
Breast carcinoma (present)
Indication for testing: Breast cancer, susceptibility to
Zygosity: 1 Single Heterozygote
Ethnicity/Population group: European caucasoid
Testing laboratory: Molecular Diagnostics Laboratory, Hereditary Cancer Program, Catalan Institute of Oncology, Granvia de l’Hospitalet 199-203, 08908 L’Hospitalet de Llobregat, Barcelona, Spain
Observation 26
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Clinical Features:
Breast carcinoma (present) , Ovarian cancer (present)
Indication for testing: Familial ovarian cancer
Zygosity: 1 Single Heterozygote
Ethnicity/Population group: European caucasoid
Comment on evidence:
Carrier of an heterozygous pathogenic variant in BRCA2
Testing laboratory: Molecular Diagnostics Laboratory, Hereditary Cancer Program, Catalan Institute of Oncology, Granvia de l’Hospitalet 199-203, 08908 L’Hospitalet de Llobregat, Barcelona, Spain
Observation 27
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Clinical Features:
Ovarian serous tumor (present)
Indication for testing: Familial ovarian cancer
Zygosity: 1 Single Heterozygote
Ethnicity/Population group: European caucasoid
Testing laboratory: Molecular Diagnostics Laboratory, Hereditary Cancer Program, Catalan Institute of Oncology, Granvia de l’Hospitalet 199-203, 08908 L’Hospitalet de Llobregat, Barcelona, Spain
Observation 28
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Clinical Features:
Mucinous colorectal cancer (present)
Indication for testing: Familial colorectal cancer
Zygosity: 1 Single Heterozygote
Ethnicity/Population group: European caucasoid
Testing laboratory: Molecular Diagnostics Laboratory, Hereditary Cancer Program, Catalan Institute of Oncology, Granvia de l’Hospitalet 199-203, 08908 L’Hospitalet de Llobregat, Barcelona, Spain
Observation 29
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Clinical Features:
Breast carcinoma (present) , Ovarian cancer (present)
Indication for testing: Breast and Ovarian Cancer Susceptibility
Zygosity: 1 Single Heterozygote
Ethnicity/Population group: European caucasoid
Comment on evidence:
Carrier of an heterozygous pathogenic variant in BRCA1
Testing laboratory: Fundación Pública Galega Medicina Xenómica (FPGMX), SERGAS, 15706 Santiago de Compostela, Spain
Observation 30
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Clinical Features:
Ovarian cancer (present)
Indication for testing: Familial ovarian cancer
Zygosity: 1 Single Heterozygote
Ethnicity/Population group: European caucasoid
Testing laboratory: Molecular Diagnostics Laboratory, Hereditary Cancer Program, Catalan Institute of Oncology, Granvia de l’Hospitalet 199-203, 08908 L’Hospitalet de Llobregat, Barcelona, Spain
Observation 31
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Clinical Features:
Cervix cancer (present) , Breast carcinoma (present)
Indication for testing: Breast cancer, susceptibility to
Zygosity: 1 Single Heterozygote
Ethnicity/Population group: European caucasoid
Testing laboratory: Molecular Diagnostics Laboratory, Hereditary Cancer Program, Catalan Institute of Oncology, Granvia de l’Hospitalet 199-203, 08908 L’Hospitalet de Llobregat, Barcelona, Spain
Observation 32
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Clinical Features:
Ovarian endometrioid adenocarcinoma (present)
Indication for testing: Familial ovarian cancer
Zygosity: 1 Single Heterozygote
Ethnicity/Population group: European caucasoid
Testing laboratory: Molecular Diagnostics Laboratory, Hereditary Cancer Program, Catalan Institute of Oncology, Granvia de l’Hospitalet 199-203, 08908 L’Hospitalet de Llobregat, Barcelona, Spain
Observation 33
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Clinical Features:
Cancer of the pancreas (present)
Indication for testing: Familial pancreatic carcinoma
Zygosity: 1 Single Heterozygote
Ethnicity/Population group: European caucasoid
Testing laboratory: Molecular Diagnostics Laboratory, Hereditary Cancer Program, Catalan Institute of Oncology, Granvia de l’Hospitalet 199-203, 08908 L’Hospitalet de Llobregat, Barcelona, Spain
Observation 34
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Clinical Features:
Prostate cancer (present) , Prostate Cancer (present) , Colorectal cancer (present) , Colorectal cancer (present)
Indication for testing: Adenomatous colonic polyposis
Zygosity: 1 Single Heterozygote
Ethnicity/Population group: European caucasoid
Testing laboratory: Molecular Diagnostics Laboratory, Hereditary Cancer Program, Catalan Institute of Oncology, Granvia de l’Hospitalet 199-203, 08908 L’Hospitalet de Llobregat, Barcelona, Spain
Observation 35
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Clinical Features:
Ovarian serous tumor (present)
Indication for testing: Familial ovarian cancer
Zygosity: 1 Single Heterozygote
Ethnicity/Population group: European caucasoid
Testing laboratory: Molecular Diagnostics Laboratory, Hereditary Cancer Program, Catalan Institute of Oncology, Granvia de l’Hospitalet 199-203, 08908 L’Hospitalet de Llobregat, Barcelona, Spain
Observation 36
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Clinical Features:
Colorectal cancer (present)
Indication for testing: Hereditary nonpolyposis colon cancer
Zygosity: 1 Single Heterozygote
Ethnicity/Population group: European caucasoid
Testing laboratory: Molecular Diagnostics Laboratory, Hereditary Cancer Program, Catalan Institute of Oncology, Granvia de l’Hospitalet 199-203, 08908 L’Hospitalet de Llobregat, Barcelona, Spain
Observation 37
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Clinical Features:
Breast carcinoma (present)
Indication for testing: Breast cancer, susceptibility to
Zygosity: 1 Single Heterozygote
Ethnicity/Population group: European caucasoid
Testing laboratory: Molecular Diagnostics Laboratory, Hereditary Cancer Program, Catalan Institute of Oncology, Granvia de l’Hospitalet 199-203, 08908 L’Hospitalet de Llobregat, Barcelona, Spain
Observation 38
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Clinical Features:
Breast carcinoma (present)
Indication for testing: Breast cancer, susceptibility to
Zygosity: 1 Single Heterozygote
Ethnicity/Population group: European caucasoid
Testing laboratory: Fundación Pública Galega Medicina Xenómica (FPGMX), SERGAS, 15706 Santiago de Compostela, Spain
Observation 39
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Clinical Features:
Breast carcinoma (present)
Indication for testing: Breast cancer, susceptibility to
Zygosity: 1 Single Heterozygote
Ethnicity/Population group: European caucasoid
Testing laboratory: Fundación Pública Galega Medicina Xenómica (FPGMX), SERGAS, 15706 Santiago de Compostela, Spain
Observation 40
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Clinical Features:
Breast carcinoma (present)
Indication for testing: Breast and Ovarian Cancer Susceptibility
Zygosity: 1 Single Heterozygote
Ethnicity/Population group: European caucasoid
Testing laboratory: Fundación Pública Galega Medicina Xenómica (FPGMX), SERGAS, 15706 Santiago de Compostela, Spain
Observation 41
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Clinical Features:
Breast carcinoma (present)
Indication for testing: Breast cancer, susceptibility to
Zygosity: 1 Single Heterozygote
Ethnicity/Population group: European caucasoid
Comment on evidence:
Carrier of an heterozygous likely pathogenic variant in BRCA2
Testing laboratory: Fundación Pública Galega Medicina Xenómica (FPGMX), SERGAS, 15706 Santiago de Compostela, Spain
Observation 42
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Clinical Features:
Endometrial carcinoma (present)
Indication for testing: Hereditary nonpolyposis colon cancer
Zygosity: 1 Homozygote
Ethnicity/Population group: European caucasoid
Comment on evidence:
Carrier of an heterozygous pathogenic variant in MSH6
Testing laboratory: Fundación Pública Galega Medicina Xenómica (FPGMX), SERGAS, 15706 Santiago de Compostela, Spain
Observation 43
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Clinical Features:
Lung cancer (present) , Colorectal cancer (present) , Colorectal cancer (present)
Indication for testing: Familial colorectal cancer
Zygosity: 1 Single Heterozygote
Ethnicity/Population group: European caucasoid
Testing laboratory: Fundación Pública Galega Medicina Xenómica (FPGMX), SERGAS, 15706 Santiago de Compostela, Spain
Observation 44
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Clinical Features:
Intestinal cancer (present)
Indication for testing: Hereditary gastric cancer
Zygosity: 1 Single Heterozygote
Ethnicity/Population group: European caucasoid
Testing laboratory: Fundación Pública Galega Medicina Xenómica (FPGMX), SERGAS, 15706 Santiago de Compostela, Spain
Observation 45
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Clinical Features:
Ovarian cancer (present) , Neoplasm of the rectum (present) , Cecal neoplasm (present)
Indication for testing: Hereditary nonpolyposis colon cancer
Zygosity: 1 Single Heterozygote
Ethnicity/Population group: European caucasoid
Testing laboratory: Fundación Pública Galega Medicina Xenómica (FPGMX), SERGAS, 15706 Santiago de Compostela, Spain
Observation 46
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Clinical Features:
Hamartoma (present)
Indication for testing: Peutz-Jeghers syndrome
Zygosity: 1 Single Heterozygote
Ethnicity/Population group: European caucasoid
Testing laboratory: Fundación Pública Galega Medicina Xenómica (FPGMX), SERGAS, 15706 Santiago de Compostela, Spain
Observation 47
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Clinical Features:
Intestinal cancer (present) , multiple adenomas (present)
Indication for testing: Hereditary gastric cancer, Adenomatous colonic polyposis
Zygosity: 1 Single Heterozygote
Ethnicity/Population group: European caucasoid
Testing laboratory: Fundación Pública Galega Medicina Xenómica (FPGMX), SERGAS, 15706 Santiago de Compostela, Spain
Observation 48
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Clinical Features:
Colorectal cancer (present)
Indication for testing: Hereditary nonpolyposis colon cancer
Zygosity: 1 Single Heterozygote
Ethnicity/Population group: European caucasoid
Comment on evidence:
Carrier of an heterozygous pathogenic variant in MSH2
Testing laboratory: Fundación Pública Galega Medicina Xenómica (FPGMX), SERGAS, 15706 Santiago de Compostela, Spain
|
|
|
Benign
(Apr 19, 2022)
N
Not contributing to aggregate classification
|
criteria provided, single submitter
|
Hereditary breast ovarian cancer syndrome |
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State
Accession: SCV002505150.1
First in ClinVar: Apr 30, 2022 Last updated: Apr 30, 2022 |
Observation: 1
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Observation 1
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Number of individuals with the variant: 1
Geographic origin: South Africa
|
|
|
Benign
(Jul 07, 2023)
N
Not contributing to aggregate classification
|
criteria provided, single submitter
|
Familial cancer of breast |
KCCC/NGS Laboratory, Kuwait Cancer Control Center
Accession: SCV004016686.1
First in ClinVar: Jul 29, 2023 Last updated: Jul 29, 2023 |
Observation: 1
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Observation 1
Collection method: clinical testing
Allele origin: germline
Affected status: yes
|
|
|
Benign
(May 07, 2019)
N
Not contributing to aggregate classification
|
criteria provided, single submitter
|
Hereditary cancer-predisposing syndrome |
Ambry Genetics
Accession: SCV000172759.9
First in ClinVar: Aug 06, 2014 Last updated: May 01, 2024 |
Comment:
show
This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. (less)
Observation: 1
Collection method: clinical testing
Allele origin: germline
Affected status: unknown
Observation 1
Collection method: clinical testing
Allele origin: germline
Affected status: unknown
|
|
|
Benign
(Mar 04, 2025)
N
Not contributing to aggregate classification
|
criteria provided, single submitter
|
not specified |
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
Accession: SCV004027164.2
First in ClinVar: Aug 19, 2023 Last updated: Mar 11, 2025 |
Observation: 1
Collection method: clinical testing
Allele origin: germline
Affected status: unknown
Observation 1
Collection method: clinical testing
Allele origin: germline
Affected status: unknown
|
|
|
Benign
(Jul 15, 2022)
N
Not contributing to aggregate classification
|
criteria provided, single submitter
|
Not specified |
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV007300841.1
First in ClinVar: Jan 17, 2026 Last updated: Jan 17, 2026 |
Observation: 1
Collection method: clinical testing
Allele origin: germline
Affected status: unknown
Observation 1
Collection method: clinical testing
Allele origin: germline
Affected status: unknown
Number of individuals with the variant: 21
|
|
|
Benign
(Apr 16, 2020)
N
Not contributing to aggregate classification
|
no assertion criteria provided
|
Ataxia-telangiectasia |
Natera, Inc.
Accession: SCV001461084.1
First in ClinVar: Jan 02, 2021 Last updated: Jan 02, 2021 |
Observation: 1
Collection method: clinical testing
Allele origin: germline
Affected status: unknown
Observation 1
Collection method: clinical testing
Allele origin: germline
Affected status: unknown
|
|
|
Likely benign
(-)
N
Not contributing to aggregate classification
|
no assertion criteria provided
|
Malignant tumor of breast |
Department of Pathology and Laboratory Medicine, Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV001552252.1 First in ClinVar: Apr 13, 2021 Last updated: Apr 13, 2021 |
Comment:
show
The ATM p.Pro604Ser variant was identified in 12 of 2910 proband chromosomes (frequency: 0.0041) from individuals or families with breast cancer, ovarian cancer, Ataxia Telangiectasia and several types of lymphomas and was present in 8 of 900 control chromosomes (frequency: 0.009) from healthy individuals (Broeks 2008, Dork 2001, Fang 2003, Gronbaek 2002, Verhagen 2011). The variant was also identified in dbSBP (ID: rs2227922) as “With Likely benign allele”, ClinVar (as likely benign by EGL Diagnostics, Genetic Services Laboratory Chicago, and GeneDx, and as benign by Invitae, Ambry Genetics and Color Genomics), Clinvitae (4x as benign and likely benign), and Cosmic (8x) databases. The variant was not identified in MutDB, LOVD 3.0, ATM-LOVD, databases. The variant was identified in control databases in 887 of 275954 chromosomes at a frequency of 0.003214 in the following populations: Ashkenazi Jewish in 332 (10 homozygous) of 10120 chromosomes (freq. 0.0328), Other in 49 (3 homozygous) of 6424 chromosomes (freq. 0.0076), African in 161 of 23966 chromosomes (freq. 0.0067), Latino in 135 (1 homozygous) of 34286 chromosomes (freq. 0.0039), European (Non-Finnish) in 191 of 126004 chromosomes (freq. 0.0015), South Asian in 16 (1 homozygous) of 30606 chromosomes (freq. 0.0005), and European (Finnish) in 3 of 25730 chromosomes (freq. 0.0001), increasing the likelihood this could be a low frequency benign variant (Genome Aggregation Consortium Feb 27, 2017). A study of Hodgkin’s lymphoma patients postulated that the p.Pro604Ser variant creates a new glycosylation site which might interfere with ATM function and protein–protein interaction (Offit 2002). The p.Pro604Ser variant was found to co-occur with p.Phe1463Cys in 2 individuals with Non-Hodgkin’s lymphoma (Liberzon 2004). The p.Pro604 residue is conserved in in mammals but not in more distantly related organisms, and the variant amino acid Serine (Ser) is present in the African tree frog, increasing the likelihood that this variant does not have clinical significance. Computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) suggest that the variant may impact the protein; however, this information is not predictive enough to assume pathogenicity. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) do not predict a difference in splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time although we would lean towards a more benign role for this variant. This variant is classified as likely benign. (less)
Observation: 1
Collection method: clinical testing
Allele origin: unknown
Affected status: yes
Observation 1
Collection method: clinical testing
Allele origin: unknown
Affected status: yes
|
|
|
Likely benign
(-)
N
Not contributing to aggregate classification
|
no assertion criteria provided
|
not provided |
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute
Study: VKGL Data-share Consensus
Accession: SCV001905726.1 First in ClinVar: Sep 24, 2021 Last updated: Sep 24, 2021 |
Observation: 1
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Observation 1
Collection method: clinical testing
Allele origin: germline
Affected status: yes
|
|
|
Likely benign
(-)
N
Not contributing to aggregate classification
|
no assertion criteria provided
|
not provided |
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Study: VKGL Data-share Consensus
Accession: SCV001973684.1 First in ClinVar: Oct 07, 2021 Last updated: Oct 07, 2021 |
Observation: 1
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Observation 1
Collection method: clinical testing
Allele origin: germline
Affected status: yes
|
|
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Benign
(May 20, 2019)
N
Not contributing to aggregate classification
|
no assertion criteria provided
|
ATM-related condition
|
PreventionGenetics, part of Exact Sciences
Accession: SCV000805505.3
First in ClinVar: Sep 13, 2018 Last updated: Oct 08, 2024 |
Comment:
show
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). (less)
Observation: 1
Collection method: clinical testing
Allele origin: germline
Affected status: unknown
Observation 1
Collection method: clinical testing
Allele origin: germline
Affected status: unknown
|
|
|
Likely benign
(Jul 11, 2016)
N
Not contributing to aggregate classification
|
no assertion criteria provided
|
Ataxia-telangiectasia syndrome |
Genome Diagnostics Laboratory, Amsterdam University Medical Center
Study: VKGL Data-share Consensus
Accession: SCV000745807.1 First in ClinVar: Dec 26, 2017 Last updated: Dec 26, 2017 |
Observation: 1
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Observation 1
Collection method: clinical testing
Allele origin: germline
Affected status: yes
|
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Benign
(-)
N
Not contributing to aggregate classification
|
no assertion criteria provided
|
not specified |
Clinical Genetics, Academic Medical Center
Study: VKGL Data-share Consensus
Accession: SCV001922409.1 First in ClinVar: Sep 24, 2021 Last updated: Sep 24, 2021 |
Observation: 1
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Observation 1
Collection method: clinical testing
Allele origin: germline
Affected status: yes
|
|
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Benign
(Sep 15, 2021)
N
Not contributing to aggregate classification
|
no assertion criteria provided
|
Hereditary cancer-predisposing syndrome |
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.
Accession: SCV001950163.1
First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021 |
Observation: 1
Collection method: clinical testing
Allele origin: germline
Affected status: unknown
Observation 1
Collection method: clinical testing
Allele origin: germline
Affected status: unknown
|
|
|
Likely benign
(-)
N
Not contributing to aggregate classification
|
no assertion criteria provided
|
not provided |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
Study: VKGL Data-share Consensus
Accession: SCV001958556.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021 |
Observation: 1
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Observation 1
Collection method: clinical testing
Allele origin: germline
Affected status: yes
|
|
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Likely benign
(-)
N
Not contributing to aggregate classification
|
no assertion criteria provided
|
not provided |
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
Study: VKGL Data-share Consensus
Accession: SCV002036276.1 First in ClinVar: Dec 18, 2021 Last updated: Dec 18, 2021 |
Observation: 1
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Observation 1
Collection method: clinical testing
Allele origin: germline
Affected status: yes
|
|
|
not provided
(Sep 19, 2013)
N
Not contributing to aggregate classification
|
no classification provided
|
AllHighlyPenetrant |
ITMI
Accession: SCV000084256.1
First in ClinVar: Jun 09, 2014 Last updated: Jun 09, 2014
Comment:
Please see associated publication for description of ethnicities
|
Observation:
7
Observation 1
Collection method: reference population
Allele origin: germline
Affected status: unknown
Ethnicity/Population group: Whole_cohort
Platform type: next-gen sequencing
Platform name: Complete Genomics
Observation 2
Collection method: reference population
Allele origin: germline
Affected status: unknown
Ethnicity/Population group: African
Platform type: next-gen sequencing
Platform name: Complete Genomics
Observation 3
Collection method: reference population
Allele origin: germline
Affected status: unknown
Ethnicity/Population group: African_European
Platform type: next-gen sequencing
Platform name: Complete Genomics
Observation 4
Collection method: reference population
Allele origin: germline
Affected status: unknown
Ethnicity/Population group: Central_Asian
Platform type: next-gen sequencing
Platform name: Complete Genomics
Observation 5
Collection method: reference population
Allele origin: germline
Affected status: unknown
Ethnicity/Population group: East_Asian
Platform type: next-gen sequencing
Platform name: Complete Genomics
Observation 6
Collection method: reference population
Allele origin: germline
Affected status: unknown
Ethnicity/Population group: European
Platform type: next-gen sequencing
Platform name: Complete Genomics
Observation 7
Collection method: reference population
Allele origin: germline
Affected status: unknown
Ethnicity/Population group: Hispanic
Platform Type: next-gen sequencing
Platform Name: Complete Genomics
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|
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not provided
(-)
N
Not contributing to aggregate classification
|
no classification provided
|
not provided |
GenomeConnect - Invitae Patient Insights Network
Accession: SCV001749879.2
First in ClinVar: Jul 18, 2021 Last updated: Apr 13, 2025 |
Comment:
show
Variant interpreted as Likely benign and reported on 12-22-2014 by GeneDx. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information. (less)
Observation: 1
Collection method: phenotyping only
Allele origin: unknown
Affected status: unknown
Observation 1
Collection method: phenotyping only
Allele origin: unknown
Affected status: unknown
Clinical Features:
Breast carcinoma (present)
Indication for testing: Diagnostic
Age: 30-39 years
Sex: female
Platform type: Gene Panel Sequencing
Method: Sanger Sequencing
Testing laboratory: GeneDx
Date variant was reported to submitter: 2014-12-22
Testing laboratory interpretation: Likely benign
|
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Comment:
Comment:
This variant is considered benign. This variant is strongly associated with less severe personal and family histories of cancer, typical for individuals without pathogenic variants in this gene [PMID: 25085752]. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance.
Comment:
The ATM:c.1810C>T (p.Pro604Ser) variant has been classified as likely benign based on an integrated analysis of computational predictors and ACMG/AMP criteria. In silico tools consistently indicate a minimal or no impact on protein function. Additionally, the variant is located in a non-highly conserved residue, and there is no available segregation, functional, or clinical evidence suggesting a pathogenic role. Although experimental data are lacking, the consistency of bioinformatic evidence and the absence of pathogenic features support the classification as likely benign, according to BS1 and BP4 criteria of the ACMG/AMP guidelines (adapted for the ATM gene).
Comment:
BS1+BS2+BP4_Moderate+BP1
Comment:
The frequency of this variant in the general population (http://gnomad.broadinstitute.org) is higher than would generally be expected for pathogenic variants in this gene. Computational tools predict this amino acid change may be benign.
Comment:
ATM: BP4, BS2
Comment:
Variant summary: The ATM variant, c.1810C>T (p.Pro604Ser) causes a missense change involving a conserved nucleotide with 2/4 in silico programs (SNPs&GO not captured here due to low reliability index) predict a "benign" outcome, although these predictions have yet to be functionally assessed. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 345/111640 (1/323 including 5 homozygotes), which significantly exceeds the estimated maximum expected allele frequency for a pathogenic ATM variant of 1/2000 for Breast Cancer. Therefore, suggesting the variant is a common polymorphism. The variant of interest has been reported in multiple affected individuals via publications with varying phenotypes (BrC, Lynch syndrome, B-CLL, PrC, lymphoma, Hodgkin's disease), including one individual dx with A-T that harbored this variant and another ATM variant, c.6482G>C (p.Arg2161Pro - not yet scored) and was indicated to have absent ATM protein. Two internal LCA samples (adult patients with unknown phenotypes) carried c.1810C>T variant with another pathogenic variants: 1 with a BRIP1 variant, c.440dupA (Tyr147X - classified likely pathogenic) and 1 with an ATM variant, c.1027_1030delGAAA (p.Glu343fsX2 - classified pathogenic). In addition, multiple reputable clinical laboratories cite the variant with a classification of "likely benign/benign." Therefore, taking all available information into consideration for the phenotype of Breast Cancer, the variant of interest is classified as Benign.
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Comment:
This variant was classified as: Benign. The following ACMG criteria were applied in classifying this variant: BS1,BS2.
Comment:
The c.1810C>T (p.Pro604Ser) missense variant has an allele frequency of 0.32%, (895/281,544 alleles) in the gnomAD v2.1.1 non-cancer dataset, with a maximal frequency of 0.65%, (153/23,556 alleles) in the African subpopulation (BA1; http://gnomad.broadinstitute.org). Adapted ACMG/AMP rules applied as defined by the Spanish ATM working group: BA1 (+BS2_Supporting) (PMID: 33280026).
Comment:
This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Comment:
The ATM p.Pro604Ser variant was identified in 12 of 2910 proband chromosomes (frequency: 0.0041) from individuals or families with breast cancer, ovarian cancer, Ataxia Telangiectasia and several types of lymphomas and was present in 8 of 900 control chromosomes (frequency: 0.009) from healthy individuals (Broeks 2008, Dork 2001, Fang 2003, Gronbaek 2002, Verhagen 2011). The variant was also identified in dbSBP (ID: rs2227922) as “With Likely benign allele”, ClinVar (as likely benign by EGL Diagnostics, Genetic Services Laboratory Chicago, and GeneDx, and as benign by Invitae, Ambry Genetics and Color Genomics), Clinvitae (4x as benign and likely benign), and Cosmic (8x) databases. The variant was not identified in MutDB, LOVD 3.0, ATM-LOVD, databases. The variant was identified in control databases in 887 of 275954 chromosomes at a frequency of 0.003214 in the following populations: Ashkenazi Jewish in 332 (10 homozygous) of 10120 chromosomes (freq. 0.0328), Other in 49 (3 homozygous) of 6424 chromosomes (freq. 0.0076), African in 161 of 23966 chromosomes (freq. 0.0067), Latino in 135 (1 homozygous) of 34286 chromosomes (freq. 0.0039), European (Non-Finnish) in 191 of 126004 chromosomes (freq. 0.0015), South Asian in 16 (1 homozygous) of 30606 chromosomes (freq. 0.0005), and European (Finnish) in 3 of 25730 chromosomes (freq. 0.0001), increasing the likelihood this could be a low frequency benign variant (Genome Aggregation Consortium Feb 27, 2017). A study of Hodgkin’s lymphoma patients postulated that the p.Pro604Ser variant creates a new glycosylation site which might interfere with ATM function and protein–protein interaction (Offit 2002). The p.Pro604Ser variant was found to co-occur with p.Phe1463Cys in 2 individuals with Non-Hodgkin’s lymphoma (Liberzon 2004). The p.Pro604 residue is conserved in in mammals but not in more distantly related organisms, and the variant amino acid Serine (Ser) is present in the African tree frog, increasing the likelihood that this variant does not have clinical significance. Computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) suggest that the variant may impact the protein; however, this information is not predictive enough to assume pathogenicity. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) do not predict a difference in splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time although we would lean towards a more benign role for this variant. This variant is classified as likely benign.
Comment:
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Comment:
Variant interpreted as Likely benign and reported on 12-22-2014 by GeneDx. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Detection Rate and Spectrum of Pathogenic Variations in a Cohort of 83 Patients with Suspected Hereditary Risk of Kidney Cancer. | Ouedraogo ZG | Genes | 2023 | PMID: 38002934 |
| A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer Patients. | Feliubadaló L | Clinical chemistry | 2021 | PMID: 33280026 |
| Germline variants of Brazilian women with breast cancer and detection of a novel pathogenic ATM deletion in early-onset breast cancer. | Bandeira G | Breast cancer (Tokyo, Japan) | 2021 | PMID: 32986223 |
| Hyperprogression on immunotherapy with complete response to chemotherapy in a NSCLC patient with high PD-L1 and STK11: A case report. | Fricke J | Medicine | 2020 | PMID: 33181636 |
| Using Co-segregation and Loss of Heterozygosity Analysis to Define the Pathogenicity of Unclassified Variants in Hereditary Breast Cancer Patients. | Grasel RS | Frontiers in oncology | 2020 | PMID: 33134171 |
| Targeted molecular profiling of rare genetic alterations in colorectal cancer using next-generation sequencing. | Jauhri M | Medical oncology (Northwood, London, England) | 2016 | PMID: 27568332 |
| SETD5 loss-of-function mutation as a likely cause of a familial syndromic intellectual disability with variable phenotypic expression. | Szczałuba K | American journal of medical genetics. Part A | 2016 | PMID: 27375234 |
| Morphologic correlates of molecular alterations in extrauterine Müllerian carcinomas. | Ritterhouse LL | Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc | 2016 | PMID: 27150160 |
| Genotyping of colorectal cancer for cancer precision medicine: Results from the IPH Center for Molecular Pathology. | Jesinghaus M | Genes, chromosomes & cancer | 2016 | PMID: 26917275 |
| Multigene testing of moderate-risk genes: be mindful of the missense. | Young EL | Journal of medical genetics | 2016 | PMID: 26787654 |
| Identification of potential therapeutic targets by molecular profiling of 628 cases of uterine serous carcinoma. | Jones NL | Gynecologic oncology | 2015 | PMID: 26123645 |
| Amplicon sequencing of colorectal cancer: variant calling in frozen and formalin-fixed samples. | Betge J | PloS one | 2015 | PMID: 26010451 |
| Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. | Yurgelun MB | Gastroenterology | 2015 | PMID: 25980754 |
| ATM gene mutations in sporadic breast cancer patients from Brazil. | Mangone FR | SpringerPlus | 2015 | PMID: 25625042 |
| Prevalence of germline mutations in cancer predisposition genes in patients with pancreatic cancer. | Grant RC | Gastroenterology | 2015 | PMID: 25479140 |
| Use of panel tests in place of single gene tests in the cancer genetics clinic. | Yorczyk A | Clinical genetics | 2015 | PMID: 25318351 |
| Next-generation sequencing improves the diagnosis of thyroid FNA specimens with indeterminate cytology. | Le Mercier M | Histopathology | 2015 | PMID: 24834793 |
| The p53 transcriptional pathway is preserved in ATMmutated and NOTCH1mutated chronic lymphocytic leukemias. | Athanasakis E | Oncotarget | 2014 | PMID: 25587027 |
| Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes. | Pruss D | Breast cancer research and treatment | 2014 | PMID: 25085752 |
| Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. | Bodian DL | PloS one | 2014 | PMID: 24728327 |
| Multigene profiling to identify alternative treatment options for glioblastoma: a pilot study. | Tabone T | Journal of clinical pathology | 2014 | PMID: 24695838 |
| Next-generation sequencing-based multigene mutational screening for acute myeloid leukemia using MiSeq: applicability for diagnostics and disease monitoring. | Luthra R | Haematologica | 2014 | PMID: 24142997 |
| Clinical validation of a next-generation sequencing screen for mutational hotspots in 46 cancer-related genes. | Singh RR | The Journal of molecular diagnostics : JMD | 2013 | PMID: 23810757 |
| Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population. | Haiman CA | PLoS genetics | 2013 | PMID: 23555315 |
| An informatics approach to analyzing the incidentalome. | Berg JS | Genetics in medicine : official journal of the American College of Medical Genetics | 2013 | PMID: 22995991 |
| Improved detection suggests all Merkel cell carcinomas harbor Merkel polyomavirus. | Rodig SJ | The Journal of clinical investigation | 2012 | PMID: 23114601 |
| Computational refinement of functional single nucleotide polymorphisms associated with ATM gene. | George Priya Doss C | PloS one | 2012 | PMID: 22529920 |
| Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study. | Verhagen MM | Human mutation | 2012 | PMID: 22213089 |
| Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours. | Reiman A | British journal of cancer | 2011 | PMID: 21792198 |
| Rare variants in the ATM gene and risk of breast cancer. | Goldgar DE | Breast cancer research : BCR | 2011 | PMID: 21787400 |
| Radiation exposure, the ATM Gene, and contralateral breast cancer in the women's environmental cancer and radiation epidemiology study. | Bernstein JL | Journal of the National Cancer Institute | 2010 | PMID: 20305132 |
| A genetically determined dose-volume histogram predicts for rectal bleeding among patients treated with prostate brachytherapy. | Cesaretti JA | International journal of radiation oncology, biology, physics | 2007 | PMID: 17490827 |
| Molecular variants of the ATM gene in Hodgkin's disease in children. | Liberzon E | British journal of cancer | 2004 | PMID: 14735203 |
| Contributions of ATM mutations to familial breast and ovarian cancer. | Thorstenson YR | Cancer research | 2003 | PMID: 12810666 |
| Oligonucleotide microarrays demonstrate the highest frequency of ATM mutations in the mantle cell subtype of lymphoma. | Fang NY | Proceedings of the National Academy of Sciences of the United States of America | 2003 | PMID: 12697903 |
| Rare variants of ATM and risk for Hodgkin's disease and radiation-associated breast cancers. | Offit K | Clinical cancer research : an official journal of the American Association for Cancer Research | 2002 | PMID: 12473594 |
| ATM mutations are associated with inactivation of the ARF-TP53 tumor suppressor pathway in diffuse large B-cell lymphoma. | Grønbaek K | Blood | 2002 | PMID: 12149228 |
| Spectrum of ATM gene mutations in a hospital-based series of unselected breast cancer patients. | Dörk T | Cancer research | 2001 | PMID: 11606401 |
| http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=ATM | - | - | - | - |
| https://erepo.clinicalgenome.org/evrepo/ui/interpretation/c43104b1-238b-496b-b4d2-7c03e1318375 | - | - | - | - |
| https://spadahc.ciberisciii.es/variant/GRCH37/11%20108123551%20C/T | - | - | - | - |
| - | - | - | - | DOI: 10.3390/ijms26135928 |
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Text-mined citations for rs2227922 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Jul 27, 2026
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.