ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5080G>A (p.Glu1694Lys) (rs80356896)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000685872 SCV000813372 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-02-26 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 1694 of the BRCA1 protein (p.Glu1694Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid 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 disease. Experimental studies have shown that this missense change causes modest reduction in BACH1/BRIP1 binding (PMID: 11877378). 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 RCV001076354 SCV001242085 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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