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NM_000051.4(ATM):c.4370T>G (p.Leu1457Ter)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Aug 13, 2021)
Last evaluated:
Jan 7, 2021
Accession:
VCV000142188.7
Variation ID:
142188
Description:
single nucleotide variant
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NM_000051.4(ATM):c.4370T>G (p.Leu1457Ter)

Allele ID
151902
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q22.3
Genomic location
11: 108289735 (GRCh38) GRCh38 UCSC
11: 108160462 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.108289735T>G
NG_009830.1:g.71904T>G
NM_000051.4:c.4370T>G MANE Select NP_000042.3:p.Leu1457Ter nonsense
... more HGVS
Protein change
L1457*
Other names
-
Canonical SPDI
NC_000011.10:108289734:T:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA167716
dbSNP: rs373226793
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 Sep 13, 2019 RCV000411522.2
Pathogenic 1 criteria provided, single submitter Jul 30, 2019 RCV000131174.3
Likely pathogenic 1 criteria provided, single submitter Jan 7, 2021 RCV001560591.2
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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
6418 10309

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jul 30, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000186120.6
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (1)
Comment:
The p.L1457* pathogenic mutation (also known as c.4370T>G), located in coding exon 28 of the ATM gene, results from a T to G substitution at … (more)
Likely pathogenic
(Oct 05, 2016)
criteria provided, single submitter
Method: clinical testing
Ataxia-telangiectasia syndrome
Allele origin: unknown
Counsyl
Accession: SCV000487090.1
Submitted: (Nov 23, 2016)
Evidence details
Pathogenic
(Sep 13, 2019)
criteria provided, single submitter
Method: clinical testing
Ataxia-telangiectasia syndrome
Allele origin: germline
Invitae
Accession: SCV001199386.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change creates a premature translational stop signal (p.Leu1457*) in the ATM gene. It is expected to result in an absent or disrupted protein … (more)
Likely pathogenic
(Jan 07, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001783031.1
Submitted: (Aug 13, 2021)
Evidence details
Comment:
Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not … (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
Germline genetic variants in men with prostate cancer and one or more additional cancers. Pilié PG Cancer 2017 PMID: 28657667
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

Text-mined citations for rs373226793...

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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 Oct 30, 2021