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NM_000051.4(ATM):c.4735C>T (p.Gln1579Ter)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
9 (Most recent: Nov 19, 2021)
Last evaluated:
Oct 27, 2020
Accession:
VCV000224518.17
Variation ID:
224518
Description:
single nucleotide variant
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NM_000051.4(ATM):c.4735C>T (p.Gln1579Ter)

Allele ID
226343
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q22.3
Genomic location
11: 108164163 (GRCh37) GRCh37 UCSC
11: 108293436 (GRCh38) GRCh38 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_135:g.75605C>T
LRG_135t1:c.4735C>T LRG_135p1:p.Gln1579Ter
NC_000011.9:g.108164163C>T
... more HGVS
Protein change
Q1579*
Other names
-
Canonical SPDI
NC_000011.10:108293435:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA353545
dbSNP: rs869312755
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 3 criteria provided, multiple submitters, no conflicts Oct 27, 2020 RCV000210197.6
Pathogenic/Likely pathogenic 4 criteria provided, multiple submitters, no conflicts Oct 3, 2020 RCV000234068.5
Pathogenic/Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Nov 1, 2017 RCV000255389.4
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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
(Nov 20, 2015)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
University of Washington Department of Laboratory Medicine, University of Washington
Accession: SCV000266017.1
Submitted: (Mar 03, 2016)
Evidence details
Likely pathogenic
(Dec 14, 2016)
criteria provided, single submitter
Method: clinical testing
Ataxia-telangiectasia syndrome
Allele origin: unknown
Counsyl
Accession: SCV000678088.1
Submitted: (Jun 22, 2017)
Evidence details
Publications
PubMed (1)
Pathogenic
(Sep 01, 2017)
criteria provided, single submitter
Method: clinical testing
Ataxia-telangiectasia syndrome
(Autosomal recessive inheritance)
Allele origin: maternal
Baylor Genetics
Accession: SCV000807210.1
Submitted: (Oct 16, 2017)
Evidence details
Publications
PubMed (1)
Comment:
This nonsense mutation is categorized as deleterious according to ACMG guidelines (PMID:18414213). It was found twice in our laboratory in trans with a deleterious frameshift … (more)
Pathogenic
(Aug 25, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000322058.7
Submitted: (Jan 29, 2019)
Evidence details
Comment:
This variant is denoted ATM c.4735C>T at the cDNA level and p.Gln1579Ter (Q1579X) at the protein level. The substitution creates a nonsense variant, which changes … (more)
Pathogenic
(Oct 17, 2017)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000273529.6
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (3)
Comment:
The p.Q1579* pathogenic mutation (also known as c.4735C>T), located in coding exon 30 of the ATM gene, results from a C to T substitution at … (more)
Pathogenic
(Oct 03, 2020)
criteria provided, single submitter
Method: clinical testing
Ataxia-telangiectasia syndrome
Allele origin: germline
Invitae
Accession: SCV000282966.5
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change creates a premature translational stop signal at codon 1579 (p.Gln1579*) of the ATM gene. It is expected to result in an absent … (more)
Pathogenic
(Oct 27, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV000913947.3
Submitted: (Jun 11, 2021)
Evidence details
Comment:
This variant changes 1 nucleotide in exon 31 of the ATM gene, creating a premature translation stop signal. This variant is expected to result in … (more)
Likely pathogenic
(Nov 01, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV000692733.10
Submitted: (Jul 04, 2021)
Evidence details
Pathogenic
(Feb 25, 2019)
no assertion criteria provided
Method: clinical testing
Ataxia-telangiectasia syndrome
Allele origin: germline
PerkinElmer Genomics
Accession: SCV002018918.1
Submitted: (Nov 19, 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
Improving performance of multigene panels for genomic analysis of cancer predisposition. Shirts BH Genetics in medicine : official journal of the American College of Medical Genetics 2016 PMID: 26845104
Molecular findings among patients referred for clinical whole-exome sequencing. Yang Y JAMA 2014 PMID: 25326635
Cognitive phenotype in ataxia-telangiectasia. Hoche F Pediatric neurology 2014 PMID: 25037873
DNA repair alterations in children with pediatric malignancies: novel opportunities to identify patients at risk for high-grade toxicities. Rübe CE International journal of radiation oncology, biology, physics 2010 PMID: 20153123

Text-mined citations for rs869312755...

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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 28, 2021