ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3848T>C (p.Val1283Ala) (rs80358628)

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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 RCV000509623 SCV000607877 uncertain significance Hereditary cancer-predisposing syndrome 2016-03-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Insufficient or conflicting evidence
GeneDx RCV000215042 SCV000279509 uncertain significance not provided 2015-10-21 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.3848T>C at the cDNA level, p.Val1283Ala (V1283A) at the protein level, and results in the change of a Valine to an Alanine (GTA>GCA). Using alternate nomenclature, this variant has been previously published as BRCA2 4076T>C, having been observed in a case of contralateral breast cancer (Borg 2010). BRCA2 Val1283Ala 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 Valine and Alanine share similar properties, this is considered a conservative amino acid substitution. BRCA2 Val1283Ala occurs at a position that is not conserved and is located in a region that interacts with RAD51 (Roy 2012). 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 Val1283Ala is pathogenic or benign.

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