ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8428A>G (p.Ser2810Gly) (rs80359089)

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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 RCV000129757 SCV000184564 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-11 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
GeneDx RCV000657058 SCV000567893 uncertain significance not provided 2018-03-22 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.8428A>G at the cDNA level, p.Ser2810Gly (S2810G) at the protein level, and results in the change of a Serine to a Glycine (AGT>GGT). Using alternate nomenclature, this variant would be defined as BRCA2 8656A>G. This variant has not, to our knowledge, been published in the literature as a germline variant; however it has been reported as a somatic variant in a lung tumor (Hovelson 2015). BRCA2 Ser2810Gly was not observed in large population cohorts (Lek 2016). BRCA2 Ser2810Gly is located in the DNA binding domain (Yang 2002). In-silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function. Based on currently available information, it is unclear whether BRCA2 Ser2810Gly is pathogenic or benign. We consider it to be a variant of uncertain significance.
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000484281 SCV000592192 uncertain significance not specified 2016-02-17 criteria provided, single submitter clinical testing
Color RCV000129757 SCV000911248 likely benign Hereditary cancer-predisposing syndrome 2017-02-13 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113930 SCV000147361 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing

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