ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5650A>G (p.Ile1884Val) (rs398122538)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000132469 SCV000187563 uncertain significance Hereditary cancer-predisposing syndrome 2014-04-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign)
Color RCV000132469 SCV000688937 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-25 criteria provided, single submitter clinical testing
Invitae RCV000474428 SCV000549631 uncertain significance Hereditary breast and ovarian cancer syndrome 2016-08-30 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 1884 of the BRCA2 protein (p.Ile1884Val). 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: 91422). 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 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.
Sharing Clinical Reports Project (SCRP) RCV000076939 SCV000108736 uncertain significance Breast-ovarian cancer, familial 2 2006-08-25 no assertion criteria provided clinical testing

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