ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2677A>T (p.Lys893Ter)

dbSNP: rs80357170
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Total submissions: 3
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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) RCV000031061 SCV000299807 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000702700 SCV000831563 pathogenic Hereditary breast ovarian cancer syndrome 2018-02-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 37480). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys893*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product.
Sharing Clinical Reports Project (SCRP) RCV000031061 SCV000053656 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2009-03-03 no assertion criteria provided clinical testing

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