ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2239G>A (p.Glu747Lys) (rs878853561)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000431436 SCV000522175 uncertain significance not provided 2018-09-24 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.2239G>A at the cDNA level, p.Glu747Lys (E747K) at the protein level, and results in the change of a Glutamic Acid to a Lysine (GAA>AAA). Using alternate nomenclature, this variant would be defined as BRCA2 2467G>A. This variant has not, to our knowledge, been published in the literature as a pathogenic or benign germline variant. BRCA2 Glu747Lys was not observed in large population cohorts (Lek 2016). This variant is not located in a known functional domain. In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect. Based on currently available evidence, it is unclear whether BRCA2 Glu747Lys is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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