ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8192A>G (p.Gln2731Arg) (rs753837544)

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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 RCV000213899 SCV000274995 likely benign Hereditary cancer-predisposing syndrome 2015-04-01 criteria provided, single submitter clinical testing
Color RCV000213899 SCV000906573 uncertain significance Hereditary cancer-predisposing syndrome 2018-06-27 criteria provided, single submitter clinical testing
Invitae RCV000465649 SCV000549669 uncertain significance Hereditary breast and ovarian cancer syndrome 2016-11-15 criteria provided, single submitter clinical testing This sequence change replaces glutamine with arginine at codon 2731 of the BRCA2 protein (p.Gln2731Arg). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and arginine. This variant is present in population databases (rs753837544, ExAC 0.001%). This variant has been reported in an individual affected with prostate cancer (PMID: 21952622). ClinVar contains an entry for this variant (Variation ID: 231218). 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. It has been reported in both the population and an affected individual, but the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Sharing Clinical Reports Project (SCRP) RCV000239285 SCV000297563 uncertain significance Breast-ovarian cancer, familial 2 2010-06-22 no assertion criteria provided clinical testing

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