ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6485A>G (p.Lys2162Arg) (rs11571660)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478743 SCV000568166 uncertain significance not provided 2016-09-22 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.6485A>G at the cDNA level, p.Lys2162Arg (K2162R) at the protein level, and results in the change of a Lysine to an Arginine (AAA>AGA). Using alternate nomenclature, this variant would be defined as BRCA2 6713A>G. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA2 Lys2162Arg was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. Since Lysine and Arginine share similar properties, this is considered a conservative amino acid substitution. BRCA2 Lys2162Arg occurs at a position that is not conserved and is not located in a known functional domain (Roy 2012, UniProt). In silico analyses predict that this variant is unlikely to alter protein structure or function. Based on currently available evidence, it is unclear whether BRCA2 Lys2162Arg is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Color RCV000772763 SCV000906142 uncertain significance Hereditary cancer-predisposing syndrome 2018-04-23 criteria provided, single submitter clinical testing

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