ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2045T>C (p.Ile682Thr) (rs398122739)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770714 SCV000902191 uncertain significance Breast and/or ovarian cancer 2017-06-06 criteria provided, single submitter clinical testing
Invitae RCV000525381 SCV000635200 uncertain significance Hereditary breast and ovarian cancer syndrome 2017-07-30 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 682 of the BRCA2 protein (p.Ile682Thr). The isoleucine residue is moderately conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRCA2-related disease. ClinVar contains an entry for this variant (Variation ID: 91768). 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 threonine 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.
Sharing Clinical Reports Project (SCRP) RCV000077676 SCV000109479 uncertain significance Breast-ovarian cancer, familial 2 2012-07-06 no assertion criteria provided clinical testing

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