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.1543G>T (p.Glu515Ter)

Help
Interpretation:
Pathogenic​

Review status:
reviewed by expert panel
Submissions:
1 (Most recent: Sep 13, 2016)
Last evaluated:
Sep 8, 2016
Accession:
VCV000254395.1
Variation ID:
254395
Description:
single nucleotide variant
Help

NM_007294.3(BRCA1):c.1543G>T (p.Glu515Ter)

Allele ID
249148
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 43093988 (GRCh38) GRCh38 UCSC
17: 41246005 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.41246005C>A
NC_000017.11:g.43093988C>A
NM_007294.3:c.1543G>T NP_009225.1:p.Glu515Ter nonsense
... more HGVS
Protein change
E515*
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10586655
dbSNP: rs886037990
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 reviewed by expert panel Sep 8, 2016 RCV000241164.1
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
7693 7841

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Sep 08, 2016)
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)
Accession: SCV000299618.2
Submitted: (Sep 13, 2016)
Evidence details
Comment:
Variant allele predicted to encode a truncated non-functional protein.

Citations for this variant

There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Jan 24, 2020