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NM_000051.4(ATM):c.7705_7706del (p.Arg2568_Asp2569insTer)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
8 (Most recent: Oct 22, 2021)
Last evaluated:
Oct 5, 2021
Accession:
VCV000220550.12
Variation ID:
220550
Description:
2bp microsatellite
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NM_000051.4(ATM):c.7705_7706del (p.Arg2568_Asp2569insTer)

Allele ID
222116
Variant type
Microsatellite
Variant length
2 bp
Cytogenetic location
11q22.3
Genomic location
11: 108331951-108331952 (GRCh38) GRCh38 UCSC
11: 108202678-108202679 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_135:g.114121GA[1]
LRG_135t1:c.7705_7706del
NC_000011.10:g.108331952GA[1]
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000011.10:108331950:AGAGA:AGA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA334724
dbSNP: rs759965045
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 5 criteria provided, multiple submitters, no conflicts Jan 11, 2021 RCV000204947.11
Pathogenic 2 criteria provided, multiple submitters, no conflicts Jan 15, 2020 RCV000214581.5
Pathogenic 1 criteria provided, single submitter Oct 5, 2021 RCV000478786.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ATM Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
6424 10317
C11orf65 - - - GRCh38
GRCh37
3 3892

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Mar 23, 2016)
criteria provided, single submitter
Method: clinical testing
Ataxia-telangiectasia syndrome
Allele origin: unknown
Counsyl
Accession: SCV000486046.1
Submitted: (Nov 23, 2016)
Evidence details
Publications
PubMed (3)
Likely pathogenic
(Nov 13, 2018)
criteria provided, single submitter
Method: clinical testing
Ataxia-telangiectasia syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000914480.1
Submitted: (Feb 01, 2019)
Evidence details
Publications
PubMed (4)
Comment:
The ATM c.7705_7706delGA (p.Asp2569Ter) variant is a stop-gained variant predicted to result in premature termination of the protein. The p.Asp2569Ter variant has been reported in … (more)
Pathogenic
(Jan 15, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV000682432.2
Submitted: (May 19, 2020)
Comment:
This variant deletes 2 nucleotides in exon 52 of the ATM gene, creating a frameshift and premature translation stop signal. This variant is expected to … (more)
Evidence details
Pathogenic
(Apr 24, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000275917.5
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (3)
Comment:
The c.7705_7706delGA pathogenic mutation, located in coding exon 51 of the ATM gene, results from a deletion of two nucleotides at nucleotide positions 7705 to … (more)
Pathogenic
(Jan 11, 2021)
criteria provided, single submitter
Method: clinical testing
Ataxia-telangiectasia syndrome
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001478774.1
Submitted: (Feb 09, 2021)
Evidence details
Publications
PubMed (4)
Comment:
Variant summary: ATM c.7705_7706delGA (p.Asp2569X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein … (more)
Pathogenic
(Sep 26, 2020)
criteria provided, single submitter
Method: clinical testing
Ataxia-telangiectasia syndrome
Allele origin: germline
Invitae
Accession: SCV000261175.8
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (6)
Comment:
This sequence change creates a premature translational stop signal (p.Asp2569*) in the ATM gene. It is expected to result in an absent or disrupted protein … (more)
Pathogenic
(Oct 05, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000565939.5
Submitted: (Oct 22, 2021)
Evidence details
Comment:
Not observed at a significant frequency in large population cohorts (Lek 2016); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in … (more)
Pathogenic
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
Ataxia-telangiectasia
Allele origin: germline
Natera, Inc.
Accession: SCV001462590.1
Submitted: (Dec 28, 2020)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
Patterns and functional implications of rare germline variants across 12 cancer types. Lu C Nature communications 2015 PMID: 26689913
Ten new ATM alterations in Polish patients with ataxia-telangiectasia. Podralska MJ Molecular genetics & genomic medicine 2014 PMID: 25614872
Twelve novel Atm mutations identified in Chinese ataxia telangiectasia patients. Huang Y Neuromolecular medicine 2013 PMID: 23807571
Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rate. Mitui M Human mutation 2003 PMID: 12815592
Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. Li A American journal of medical genetics 2000 PMID: 10817650
Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences. Teraoka SN American journal of human genetics 1999 PMID: 10330348
Comparative Study of the Treatment of Tuberculous Cervical Lymphadenitis with Special Reference of Streptomycin, P.A.S. and Isonicotinic Acid Hydrazide. Almast SC The Indian medical gazette 1953 PMID: 29015585

Text-mined citations for rs759965045...

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These 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 Nov 27, 2021