ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4165T>G (p.Phe1389Val) (rs1409088355)

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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 RCV000574569 SCV000661271 uncertain significance Hereditary cancer-predisposing syndrome 2016-03-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Color RCV000574569 SCV000688855 uncertain significance Hereditary cancer-predisposing syndrome 2018-06-19 criteria provided, single submitter clinical testing
Invitae RCV000531813 SCV000635346 uncertain significance Hereditary breast and ovarian cancer syndrome 2017-03-30 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with valine at codon 1389 of the BRCA2 protein (p.Phe1389Val). The phenylalanine residue is weakly conserved and there is a small physicochemical difference between phenylalanine 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. 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 novel 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759615 SCV000889045 uncertain significance not provided 2017-12-02 criteria provided, single submitter clinical testing

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