ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1441A>G (p.Ile481Val) (rs760559435)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000205133 SCV000259458 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-04-25 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 481 of the BRCA2 protein (p.Ile481Val). The isoleucine residue is weakly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs760559435, ExAC 0.009%) but has not been reported in the literature in individuals with a BRCA2-related disease. ClinVar contains an entry for this variant (Variation ID: 219539). 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 valine 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.
Ambry Genetics RCV000566955 SCV000665957 uncertain significance Hereditary cancer-predisposing syndrome 2017-01-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Counsyl RCV000663047 SCV000786092 uncertain significance Breast-ovarian cancer, familial 2 2018-02-20 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759574 SCV000888978 uncertain significance not provided 2018-06-20 criteria provided, single submitter clinical testing
Color RCV000566955 SCV000903457 likely benign Hereditary cancer-predisposing syndrome 2017-05-23 criteria provided, single submitter clinical testing

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