ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4897A>G (p.Ile1633Val) (rs80358713)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000044516 SCV000072529 uncertain significance Hereditary breast and ovarian cancer syndrome 2016-06-26 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 1633 of the BRCA2 protein (p.Ile1633Val). The isoleucine residue is weakly conserved and there is a small physicochemical difference between isoleucine and valine. 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: 51736). 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 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 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.
Counsyl RCV000113355 SCV000488142 uncertain significance Breast-ovarian cancer, familial 2 2016-02-19 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113355 SCV000146501 uncertain significance Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing

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