ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4279T>A (p.Phe1427Ile) (rs730881531)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000160076 SCV000210333 uncertain significance not provided 2017-10-19 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.4279T>A at the cDNA level, p.Phe1427Ile (F1427I) at the protein level, and results in the change of a Phenylalanine to an Isoleucine (TTT>ATT). Using alternate nomenclature, this variant would be defined as BRCA2 4507T>A. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA2 Phe1427Ile was not observed in large population cohorts (Lek 2016). Since Phenylalanine and Isoleucine share similar properties, this is considered a conservative amino acid substitution. BRCA2 Phe1427Ile occurs at a position that is not conserved and is located within the BRC3 repeat domain as well as the RAD51 binding region (Cole 2011, 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 Phe1427Ile is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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