ClinVar Miner

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

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Total submissions: 6
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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 2019-12-17 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%). This variant has been observed in an individual with a personal or family history of breast and/or ovarian cancer (PMID: 27062684). 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.
Ambry Genetics RCV000566955 SCV000665957 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-07 criteria provided, single submitter clinical testing 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
Institute of Human Genetics, University of Leipzig Medical Center RCV000663047 SCV001428536 uncertain significance Breast-ovarian cancer, familial 2 2018-05-11 criteria provided, single submitter clinical testing

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