ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3100A>G (p.Ile1034Val) (rs755227053)

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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 RCV000220832 SCV000277630 uncertain significance Hereditary cancer-predisposing syndrome 2015-07-30 criteria provided, single submitter clinical testing
GeneDx RCV000255558 SCV000321456 uncertain significance not provided 2018-02-22 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.3100A>G at the cDNA level, p.Ile1034Val (I1034V) at the protein level, and results in the change of an Isoleucine to a Valine (ATT>GTT). Using alternate nomenclature, this variant would be defined as BRCA2 3328A>G. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA2 Ile1034Val was not observed at a significant allele frequency in large population cohorts (Lek 2016). Since Isoleucine and Valine share similar properties, this is considered a conservative amino acid substitution. BRCA2 Ile1034Val is located in the BRC1 domain (Cole 2011, Roy 2012). In silico analysis, which includes protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. Based on currently available information, it is unclear whether BRCA2 Ile1034Val is pathogenic or benign. We consider it to be a variant of uncertain significance.

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