ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3330A>C (p.Glu1110Asp) (rs369294255)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000580365 SCV000683548 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-02 criteria provided, single submitter clinical testing
Invitae RCV000816307 SCV000956808 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-07-11 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with aspartic acid at codon 1110 of the BRCA2 protein (p.Glu1110Asp). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and aspartic acid. This variant is present in population databases (rs369294255, ExAC 0.01%). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 252827). 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758882 SCV000887788 uncertain significance not provided 2017-11-27 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000239030 SCV000297430 uncertain significance Breast-ovarian cancer, familial 2 2010-12-22 no assertion criteria provided clinical testing

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