ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2706A>C (p.Glu902Asp) (rs398122665)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204921 SCV000261831 uncertain significance Hereditary breast and ovarian cancer syndrome 2015-10-29 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with aspartic acid at codon 902 of the BRCA1 protein (p.Glu902Asp). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and aspartic acid. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature. ClinVar contains an entry for this variant (Variation ID: 91597). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. In summary, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Color RCV000583357 SCV000688396 uncertain significance Hereditary cancer-predisposing syndrome 2020-01-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000583357 SCV001177172 uncertain significance Hereditary cancer-predisposing syndrome 2018-11-10 criteria provided, single submitter clinical testing Insufficient evidence
Sharing Clinical Reports Project (SCRP) RCV000077114 SCV000108911 uncertain significance Breast-ovarian cancer, familial 1 2008-04-28 no assertion criteria provided clinical testing

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