ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.10230C>A (p.Asp3410Glu) (rs80358404)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000043730 SCV000071743 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-03-13 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glutamic acid at codon 3410 of the BRCA2 protein (p.Asp3410Glu). The aspartic acid residue is weakly conserved and there is a small physicochemical difference between aspartic acid and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed in a family affected with breast/ovarian cancer (PMID: 27062684). ClinVar contains an entry for this variant (Variation ID: 51057). 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: "Possibly 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.
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000500767 SCV000592319 uncertain significance not specified 2013-06-04 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000679152 SCV000805643 uncertain significance not provided 2018-01-15 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000679152 SCV000888975 uncertain significance not provided 2018-02-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV001017039 SCV001178062 uncertain significance Hereditary cancer-predisposing syndrome 2018-12-28 criteria provided, single submitter clinical testing Insufficient evidence
Breast Cancer Information Core (BIC) (BRCA2) RCV000112852 SCV000145769 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing

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