ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9611C>G (p.Thr3204Ser) (rs80359232)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breast Cancer Information Core (BIC) (BRCA2) RCV000114134 SCV000147674 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Invitae RCV000045866 SCV000073879 uncertain significance Hereditary breast and ovarian cancer syndrome 2016-08-03 criteria provided, single submitter clinical testing This sequence change replaces threonine with serine at codon 3204 of the BRCA2 protein (p.Thr3204Ser). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and serine. 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: 52874). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). The serine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies. 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759691 SCV000889184 uncertain significance not provided 2017-10-06 criteria provided, single submitter clinical testing

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