ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3122G>C (p.Ser1041Thr) (rs276174832)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000469157 SCV000549844 uncertain significance Hereditary breast and ovarian cancer syndrome 2016-06-21 criteria provided, single submitter clinical testing This sequence change replaces serine with threonine at codon 1041 of the BRCA2 protein (p.Ser1041Thr). The serine residue is weakly conserved and there is a small physicochemical difference between serine and threonine. 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: (SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). The threonine amino acid residue is also 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 novel missense change that is not predicted to affect 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.
Counsyl RCV000663133 SCV000786274 uncertain significance Breast-ovarian cancer, familial 2 2018-04-02 criteria provided, single submitter clinical testing
Color RCV000773051 SCV000906452 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-26 criteria provided, single submitter clinical testing

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