ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5884A>G (p.Ile1962Val) (rs747406932)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000637377 SCV000758833 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-03-29 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 1962 of the BRCA2 protein (p.Ile1962Val). The isoleucine residue is weakly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs747406932, ExAC 0.02%). This variant has been reported in an individual affected with breast cancer (PMID: 22034289). 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 and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000656611 SCV000778693 uncertain significance not provided 2017-06-23 no assertion criteria provided clinical testing

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