ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.550C>G (p.Leu184Val) (rs749053313)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000213207 SCV000278444 uncertain significance Hereditary cancer-predisposing syndrome 2015-09-22 criteria provided, single submitter clinical testing
GeneDx RCV000236398 SCV000293738 uncertain significance not provided 2015-12-24 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.550C>G at the cDNA level, p.Leu184Val (L184V) at the protein level, and results in the change of a Leucine to a Valine (CTA>GTA). Using alternate nomenclature, this variant would be defined as BRCA2 778C>G. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA2 Leu184Val 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 Leucine and Valine share similar properties, this is considered a conservative amino acid substitution. BRCA2 Leu184Val occurs at a position that is conserved across species and is not located in a known functional domain (UniProt). In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available evidence, it is unclear whether BRCA2 Leu184Val is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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