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NM_000051.4(ATM):c.4148C>A (p.Ser1383Ter)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 25, 2020
Accession:
VCV000553301.4
Variation ID:
553301
Description:
single nucleotide variant
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NM_000051.4(ATM):c.4148C>A (p.Ser1383Ter)

Allele ID
545342
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q22.3
Genomic location
11: 108289015 (GRCh38) GRCh38 UCSC
11: 108159742 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_135:g.71184C>A
LRG_135t1:c.4148C>A LRG_135p1:p.Ser1383Ter
NC_000011.9:g.108159742C>A
... more HGVS
Protein change
S1383*
Other names
-
Canonical SPDI
NC_000011.10:108289014:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs141087784
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 Oct 25, 2020 RCV000668716.2
Pathogenic 1 criteria provided, single submitter Dec 11, 2017 RCV001021947.1
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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
(Aug 15, 2017)
criteria provided, single submitter
Method: clinical testing
Ataxia-telangiectasia syndrome
Allele origin: unknown
Counsyl
Accession: SCV000793361.1
Submitted: (Jul 10, 2018)
Evidence details
Pathogenic
(Dec 11, 2017)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV001183627.2
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (1)
Comment:
The p.S1383* pathogenic mutation (also known as c.4148C>A), located in coding exon 27 of the ATM gene, results from a C to A substitution at … (more)
Pathogenic
(Oct 25, 2020)
criteria provided, single submitter
Method: clinical testing
Ataxia-telangiectasia syndrome
Allele origin: germline
Invitae
Accession: SCV001592887.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change creates a premature translational stop signal (p.Ser1383*) in the ATM gene. It is expected to result in an absent or disrupted protein … (more)

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
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
The ATM gene and breast cancer: is it really a risk factor? Angèle S Mutation research 2000 PMID: 10767628

Text-mined citations for rs141087784...

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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 Dec 04, 2021