ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2162C>G (p.Pro721Arg) (rs730881512)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000160043 SCV000210283 uncertain significance not provided 2014-05-01 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.2162C>G at the cDNA level, p.Pro721Arg (P721R) at the protein level, and results in the change of a Proline to an Arginine (CCA>CGA). This variant, also denoted as 2390C>G using alternate nomenclature, has not been published in the literature as pathogenic or benign to our knowledge. BRCA2 Pro721Arg was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Since Proline and Arginine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. BRCA2 Pro721Arg occurs at a position that is moderately conserved across species and is located in the NPM1 binding domain (UniProt). In silico analyses predict that this variant is unlikely to alter protein structure or function. Based on currently available information, it is unclear whether BRCA2 Pro721Arg is pathogenic or benign. We consider it to be a variant of uncertain significance.

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