ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.141C>A (p.Cys47Ter)

dbSNP: rs398122635
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000077070 SCV000299412 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Invitae RCV000801060 SCV000940816 pathogenic Hereditary breast ovarian cancer syndrome 2021-04-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with breast cancer (PMID: 30039884). ClinVar contains an entry for this variant (Variation ID: 91553). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Cys47*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584).
Sharing Clinical Reports Project (SCRP) RCV000077070 SCV000108867 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2012-01-23 no assertion criteria provided clinical testing
Brotman Baty Institute, University of Washington RCV000077070 SCV001237966 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro

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