ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8941G>A (p.Glu2981Lys) (rs139052578)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130691 SCV000185578 uncertain significance Hereditary cancer-predisposing syndrome 2017-02-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign)
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034470 SCV000043236 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
Color RCV000130691 SCV000689159 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-16 criteria provided, single submitter clinical testing
GeneDx RCV000034470 SCV000210539 uncertain significance not provided 2018-07-05 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.8941G>A at the cDNA level, p.Glu2981Lys (E2981K) 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 9169G>A. This variant has been observed in individuals diagnosed with early-onset and/or familial breast cancer, ovarian cancer, and early-onset or familial prostate cancer (Hansen 2011, Maier 2014, Caminsky 2016). BRCA2 Glu2981Lys was not observed at a significant allele frequency 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 Glu2981Lys is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000212283 SCV000600833 uncertain significance not specified 2016-11-19 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000034470 SCV000887948 uncertain significance not provided 2017-11-10 criteria provided, single submitter clinical testing

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