ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3083A>G (p.Lys1028Arg) (rs730881519)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000160055 SCV000210303 uncertain significance not provided 2014-08-04 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.3083A>G at the cDNA level, p.Lys1028Arg (K1028R) at the protein level, and results in the change of a Lysine to an Arginine (AAA>AGA). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA2 Lys1028Arg 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 Lysine and Arginine share similar properties, this is considered a conservative amino acid substitution. BRCA2 Lys1028Arg occurs at a position that is highly conserved across species and is located in BRC 1st repeat domain (UniProt). In silico analyses predict that this variant is probably damaging to protein structure and function. Based on currently available information, it is unclear whether BRCA2 Lys1028Arg is pathogenic or benign. We consider it to be a variant of uncertain significance.

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