ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8204C>G (p.Pro2735Arg) (rs730881564)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000160151 SCV000210468 uncertain significance not provided 2018-10-02 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.8204C>G at the cDNA level, p.Pro2735Arg (P2735R) at the protein level, and results in the change of a Proline to an Arginine (CCC>CGC). Using alternate nomenclature, this variant would be defined as BRCA2 8432C>G. This variant has been reported in at least one individual with a personal history of colorectal cancer, whose tumor studies demonstrated mismatch repair proficiency via normal immunohistochemistry (IHC) and/or microsatellite stability (Pearlman 2017). BRCA2 Pro2735Arg was not observed at a significant allele frequency in large population cohorts (Lek 2016). This variant is located within the DSS1 contacting residues of the DNA binding domain (Yang 2002). In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect. Based on currently available evidence, it is unclear whether BRCA2 Pro2735Arg is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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