ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.3841C>G (p.Gln1281Glu) (rs80356866)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482543 SCV000570105 uncertain significance not provided 2018-03-16 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.3841C>G at the cDNA level, p.Gln1281Glu (Q1281E) at the protein level, and results in the change of a Glutamine to a Glutamic Acid (CAG>GAG). Using alternate nomenclature, this variant would be defined as BRCA1 3960C>G. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA1 Gln1281Glu was not observed in large population cohorts (Lek 2016). This variant is located in SCD domain and in the binding domain of ATM, CHK2 and CDK2 (Narod 2004, Clark 2012). 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 BRCA1 Gln1281Glu is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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