ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5144T>G (p.Leu1715Trp) (rs1064793634)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486142 SCV000566654 uncertain significance not provided 2015-05-18 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.5144T>G at the cDNA level, p.Leu1715Trp (L1715W) at the protein level, and results in the change of a Leucine to a Tryptophan (TTG>TGG). Using alternate nomenclature, this variant would be defined as BRCA2 5372T>G. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA2 Leu1715Trp 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 Leucine and Tryptophan differ in some properties, this is considered a semi-conservative amino acid substitution. BRCA2 Leu1715Trp occurs at a position that is not conserved and is located in the BRC repeats region that interacts with RAD51 (Roy 2012). In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available information, it is unclear whether BRCA2 Leu1715Trp is pathogenic or benign. We consider it to be a variant of uncertain significance.

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