ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1433C>A (p.Thr478Lys) (rs431825282)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000772727 SCV000906024 uncertain significance Hereditary cancer-predisposing syndrome 2018-06-27 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763880 SCV000894815 uncertain significance Familial cancer of breast; Breast-ovarian cancer, familial 2; Fanconi anemia, complementation group D1; Medulloblastoma; Wilms tumor 1; Malignant tumor of prostate; Pancreatic cancer 2; Glioma susceptibility 3 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000559197 SCV000635161 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-04-10 criteria provided, single submitter clinical testing This sequence change replaces threonine with lysine at codon 478 of the BRCA2 protein (p.Thr478Lys). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and lysine. 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: 96764). 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 lysine 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 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.
Sharing Clinical Reports Project (SCRP) RCV000082885 SCV000114959 uncertain significance Breast-ovarian cancer, familial 2 2012-05-01 no assertion criteria provided clinical testing

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