ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1490C>T (p.Ser497Leu) (rs1064794018)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000773057 SCV000906467 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000486670 SCV000567599 uncertain significance not provided 2016-08-29 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.1490C>T at the cDNA level, p.Ser497Leu (S497L) at the protein level, and results in the change of a Serine to a Leucine (TCA>TTA). Using alternate nomenclature, this variant would be defined as BRCA2 1718C>T. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA2 Ser497Leu 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 Serine and Leucine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. BRCA2 Ser497Leu occurs at a position that is not conserved and is not located in a known functional domain. 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 Ser497Leu is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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