ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8305G>C (p.Glu2769Gln) (rs1064794185)

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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 RCV000563964 SCV000664591 uncertain significance Hereditary cancer-predisposing syndrome 2017-08-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Insufficient evidence
GeneDx RCV000484683 SCV000568119 uncertain significance not provided 2018-03-26 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.8305G>C at the cDNA level, p.Glu2769Gln (E2769Q) at the protein level, and results in the change of a Glutamic Acid to a Glutamine (GAA>CAA). Using alternate nomenclature, this variant would be defined as BRCA2 8533G>C. This variant has not, to our knowledge, been published in the literature as being pathogenic or benign. BRCA2 Glu2769Gln was not observed in large population cohorts (Lek 2016). This variant is located in the DNA binding domain (Yang 2002). In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function. Based on currently available evidence, it is unclear whether BRCA2 Glu2769Gln is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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