ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2098T>A (p.Leu700Ile) (rs431825293)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000776355 SCV000911749 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-27 criteria provided, single submitter clinical testing
Invitae RCV000204537 SCV000260904 uncertain significance Hereditary breast and ovarian cancer syndrome 2015-09-30 criteria provided, single submitter clinical testing This sequence change replaces leucine with isoleucine at codon 700 of the BRCA2 protein (p.Leu700Ile). The leucine residue is weakly conserved and there is a small physicochemical difference between leucine and isoleucine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature. ClinVar contains an entry for this variant (Variation ID: 96777). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. In summary, this is a novel missense change that is not predicted to affect protein function or cause disease. However, the evidence is insufficient at this time to prove that conclusively. It has been classified as a Variant of Uncertain Significance.
Sharing Clinical Reports Project (SCRP) RCV000082898 SCV000114972 uncertain significance Breast-ovarian cancer, familial 2 2013-03-08 no assertion criteria provided clinical testing

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