ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9383G>A (p.Arg3128Gln) (rs397507427)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130023 SCV000184849 uncertain significance Hereditary cancer-predisposing syndrome 2018-01-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000500827 SCV000592282 uncertain significance not specified 2012-07-19 criteria provided, single submitter clinical testing
Invitae RCV000705810 SCV000834825 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-05-11 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 3128 of the BRCA2 protein (p.Arg3128Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs397507427, ExAC 0.01%). This variant has not been reported in the literature in individuals with BRCA2-related disease. ClinVar contains an entry for this variant (Variation ID: 38236). 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 glutamine 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985626 SCV001133979 uncertain significance not provided 2018-10-23 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031819 SCV000054427 uncertain significance Breast-ovarian cancer, familial 2 2012-05-01 no assertion criteria provided clinical testing

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