ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.220C>A (p.Gln74Lys) (rs80357234)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000774420 SCV000908122 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-23 criteria provided, single submitter clinical testing
Invitae RCV001049829 SCV001213902 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-03-25 criteria provided, single submitter clinical testing This sequence change replaces glutamine with lysine at codon 74 of the BRCA1 protein (p.Gln74Lys). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and lysine. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 RCV001073014 SCV001238490 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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