ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9229T>C (p.Phe3077Leu) (rs1555288568)

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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 RCV000563863 SCV000668647 uncertain significance Hereditary cancer-predisposing syndrome 2016-04-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
GeneDx RCV000626306 SCV000746967 uncertain significance not provided 2017-11-22 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.9229T>C at the cDNA level, p.Phe3077Leu (F3077L) at the proteinlevel, and results in the change of a Phenylalanine to a Leucine (TTT>CTT). Using alternate nomenclature, this variantwould be defined as BRCA2 9457T>C. This variant has not, to our knowledge, been published in the literature aspathogenic or benign. BRCA2 Phe3077Leu was not observed in large population cohorts (Lek 2016). SincePhenylalanine and Leucine share similar properties, this is considered a conservative amino acid substitution. BRCA2Phe3077Leu is located in DNA Binding Domain (Yang 2002). In-silico analyses, including protein predictors andevolutionary conservation, support that this variant does not alter protein structure or function. Based on currentlyavailable evidence, it is unclear whether BRCA2 Phe3077Leu is a pathogenic or benign variant. We consider it to be avariant of uncertain significance.

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