ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.139T>C (p.Cys47Arg) (rs80357370)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000807432 SCV000947484 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-12-17 criteria provided, single submitter clinical testing This sequence change replaces cysteine with arginine at codon 47 of the BRCA1 protein (p.Cys47Arg). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in a family affected with breast, lung, gastric and other cancers (PMID: 30032850). This variant affects the highly conserved Cys47 residue within the N-terminal RING domain of the BRCA1 protein (PMID: 22843421). This variant has been reported to affect BRCA1 protein function (PMID: 25823446, 30209399). 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.
Breast Center,Key Laboratory of Carcinogenesis and Translational Research RCV000807432 SCV001430314 pathogenic Hereditary breast and ovarian cancer syndrome 2020-05-01 criteria provided, single submitter clinical testing
Brotman Baty Institute,University of Washington RCV001077071 SCV001242935 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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