Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_007294.3(BRCA1):c.2570T>A (p.Leu857Ter)

Help
Interpretation:
Pathogenic​

Review status:
reviewed by expert panel
Submissions:
2 (Most recent: May 21, 2018)
Last evaluated:
Dec 15, 2017
Accession:
VCV000224421.1
Variation ID:
224421
Description:
single nucleotide variant
Help

NM_007294.3(BRCA1):c.2570T>A (p.Leu857Ter)

Allele ID
226202
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 43092961 (GRCh38) GRCh38 UCSC
17: 41244978 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.41244978A>T
NC_000017.11:g.43092961A>T
NM_007294.3:c.2570T>A NP_009225.1:p.Leu857Ter nonsense
... more HGVS
Protein change
L857*
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10575948
dbSNP: rs886037787
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 reviewed by expert panel Dec 15, 2017 RCV000661199.1
Pathogenic 1 criteria provided, single submitter Nov 1, 2015 RCV000240707.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
BRCA1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
7692 7840

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Dec 15, 2017)
reviewed by expert panel
Method: curation
Breast-ovarian cancer, familial 1
Allele origin: germline
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Study: ENIGMA
Accession: SCV000783455.1
Submitted: (May 21, 2018)
Evidence details
Comment:
Variant allele predicted to encode a truncated non-functional protein.
Pathogenic
(Nov 01, 2015)
criteria provided, single submitter
Method: research
Neoplasm of the breast
Allele origin: germline
Laboratory of Molecular Diagnosis of Cancer,West China Hospital, Sichuan University
Additional submitter:
Asia and Emerging Markets iMed,AstraZeneca
Accession: SCV000265861.1
Submitted: (Feb 27, 2016)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients. Zhong X PloS one 2016 PMID: 27257965

Record last updated Jan 14, 2020