ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5089T>A (p.Cys1697Ser) (rs80356993)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129428 SCV000184198 uncertain significance Hereditary cancer-predisposing syndrome 2013-12-09 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Invitae RCV001043125 SCV001206840 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-08-18 criteria provided, single submitter clinical testing This sequence change replaces cysteine with serine at codon 1697 of the BRCA1 protein (p.Cys1697Ser). The cysteine residue is highly conserved and there is a moderate physicochemical difference between cysteine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 141077). This variant has been reported not to substantially affect BRCA1 protein function (PMID: 30209399). This variant disrupts the p.Cys1697 amino acid residue in BRCA1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 11389159, 11157798, 18465347, 20516115, 14534301). This suggests that this residue is clinically-significant, and that variants that disrupt this residue are likely to be disease-causing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Brotman Baty Institute,University of Washington RCV001076363 SCV001242096 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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