ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8128A>G (p.Ser2710Gly) (rs398122597)

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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 RCV000219126 SCV000275171 likely benign Hereditary cancer-predisposing syndrome 2018-09-23 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other strong data supporting benign classification
Invitae RCV000474416 SCV000549692 uncertain significance Hereditary breast and ovarian cancer syndrome 2016-09-10 criteria provided, single submitter clinical testing This sequence change replaces serine with glycine at codon 2710 of the BRCA2 protein (p.Ser2710Gly). The serine residue is moderately conserved and there is a small physicochemical difference between serine and glycine. 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: 91502). 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 glycine amino acid residue is also 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. 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.
Counsyl RCV000077019 SCV000786448 uncertain significance Breast-ovarian cancer, familial 2 2018-05-03 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077019 SCV000108816 uncertain significance Breast-ovarian cancer, familial 2 2011-03-08 no assertion criteria provided clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000656623 SCV000778716 uncertain significance not provided 2017-11-06 no assertion criteria provided clinical testing

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