ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9620T>A (p.Ile3207Asn) (rs876658942)

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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 RCV000219016 SCV000274816 uncertain significance Hereditary cancer-predisposing syndrome 2015-03-23 criteria provided, single submitter clinical testing
Invitae RCV000471666 SCV000549661 uncertain significance Hereditary breast and ovarian cancer syndrome 2016-11-02 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with asparagine at codon 3207 of the BRCA2 protein (p.Ile3207Asn). The isoleucine residue is weakly conserved and there is a large physicochemical difference between isoleucine and asparagine. 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: 231075). 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507191 SCV000600872 uncertain significance not specified 2017-01-09 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000238799 SCV000297581 uncertain significance Breast-ovarian cancer, familial 2 2011-06-01 no assertion criteria provided clinical testing

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