ClinVar Miner

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

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breast Cancer Information Core (BIC) (BRCA2) RCV000112852 SCV000145769 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000500767 SCV000592319 uncertain significance not specified 2013-06-04 criteria provided, single submitter clinical testing
Invitae RCV000043730 SCV000071743 uncertain significance Hereditary breast and ovarian cancer syndrome 2017-04-20 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) and has not been reported in the literature in individuals with a BRCA2-related disease. ClinVar contains an entry for this variant (Variation ID: 51057). This variant has been observed in an individual with adenocarcinoma (Invitae). However, in that individual pathogenic allele were also identified in BRCA1 gene, which suggests that this c.10230C>A variant was not the primary cause of disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
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

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