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NM_000051.4(ATM):c.5515C>T (p.Gln1839Ter)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Sep 30, 2021)
Last evaluated:
Apr 2, 2020
Accession:
VCV000189177.6
Variation ID:
189177
Description:
single nucleotide variant
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NM_000051.4(ATM):c.5515C>T (p.Gln1839Ter)

Allele ID
186801
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q22.3
Genomic location
11: 108304693 (GRCh38) GRCh38 UCSC
11: 108175420 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_135:g.86862C>T
LRG_135t1:c.5515C>T LRG_135p1:p.Gln1839Ter
NM_000051.3:c.5515C>T NP_000042.3:p.Gln1839Ter nonsense
... more HGVS
Protein change
Q1839*
Other names
-
Canonical SPDI
NC_000011.10:108304692:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA274462
dbSNP: rs786204751
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 2 criteria provided, multiple submitters, no conflicts Nov 15, 2017 RCV000169605.1
Pathogenic 1 criteria provided, single submitter Jan 15, 2020 RCV000777919.2
Pathogenic 1 criteria provided, single submitter Apr 2, 2020 RCV001310117.1
Pathogenic 2 no assertion criteria provided - RCV001579826.2
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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

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Feb 13, 2015)
criteria provided, single submitter
Method: literature only
Ataxia-telangiectasia syndrome
(Autosomal recessive inheritance)
Allele origin: unknown
Counsyl
Accession: SCV000221126.1
Submitted: (Mar 11, 2015)
Evidence details
Publications
PubMed (5)
Pathogenic
(Nov 15, 2017)
criteria provided, single submitter
Method: clinical testing
Ataxia-telangiectasia syndrome
Allele origin: germline
Invitae
Accession: SCV000748945.1
Submitted: (Apr 02, 2018)
Evidence details
Publications
PubMed (5)
Comment:
This sequence change creates a premature translational stop signal (p.Gln1839*) in the ATM gene. It is expected to result in an absent or disrupted protein … (more)
Pathogenic
(Jan 15, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV000913961.2
Submitted: (May 19, 2020)
Comment:
This variant changes 1 nucleotide in exon 37 of the ATM gene, creating a premature translation stop signal. This variant is expected to result in … (more)
Evidence details
Pathogenic
(Apr 02, 2020)
criteria provided, single submitter
Method: clinical testing
Familial cancer of breast
Allele origin: germline
Department of Molecular Diagnostics, Institute of Oncology Ljubljana
Accession: SCV001499659.1
Submitted: (Dec 10, 2020)
Evidence details
Pathogenic
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Genome Diagnostics Laboratory, Amsterdam University Medical Center
Study: VKGL Data-share Consensus
Accession: SCV001808636.1
Submitted: (Aug 24, 2021)
Evidence details
Pathogenic
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Human Genetics - Radboudumc,Radboudumc
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001952189.1
Submitted: (Sep 30, 2021)
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
Classical ataxia telangiectasia patients have a congenitally aged immune system with high expression of CD95. Carney EF Journal of immunology (Baltimore, Md. : 1950) 2012 PMID: 22649200
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
Cancer risks and mortality in heterozygous ATM mutation carriers. Thompson D Journal of the National Cancer Institute 2005 PMID: 15928302
Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity. Becker-Catania SG Molecular genetics and metabolism 2000 PMID: 10873394
ATM germline mutations in classical ataxia-telangiectasia patients in the Dutch population. Broeks A Human mutation 1998 PMID: 9792409

Text-mined citations for rs786204751...

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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