ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7082A>G (p.His2361Arg) (rs876659579)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486065 SCV000565718 uncertain significance not provided 2018-06-26 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.7082A>G at the cDNA level, p.His2361Arg (H2361R) at the protein level, and results in the change of a Histidine to an Arginine (CAT>CGT). Using alternate nomenclature, this variant would be defined as BRCA2 7310A>G. This variant was reported in at least one individual with a personal and family history of breast cancer (Caux-Moncoutier 2011). BRCA2 His2361Arg was not observed in large population cohorts (Lek 2016). This variant is located in the FANCD2 binding domain (UniProt). 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 His2361Arg is pathogenic or benign. We consider it to be a variant of uncertain significance.

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