ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7616A>G (p.Gln2539Arg) (rs144728108)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000195784 SCV000254208 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-12-18 criteria provided, single submitter clinical testing This sequence change replaces glutamine with arginine at codon 2539 of the BRCA2 protein (p.Gln2539Arg). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and arginine. This variant is present in population databases (rs144728108, ExAC 0.003%). This variant has been reported in a study of patients affected with ovarian cancer (PMID: 18559594) as well as in an individual affected with colorectal cancer (PMID: 28135145). ClinVar contains an entry for this variant (Variation ID: 91485). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000509684 SCV000608278 uncertain significance Hereditary cancer-predisposing syndrome 2017-10-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Color RCV000509684 SCV000909267 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-06 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077002 SCV000108799 uncertain significance Breast-ovarian cancer, familial 2 2011-10-31 no assertion criteria provided clinical testing

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