ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6714T>G (p.Asp2238Glu) (rs28897742)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000218646 SCV000272984 uncertain significance Hereditary cancer-predisposing syndrome 2016-04-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign),Rarity in general population databases (dbsnp, esp, 1000 genomes)
Breast Cancer Information Core (BIC) (BRCA2) RCV000113632 SCV000146915 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Color RCV000218646 SCV000908549 likely benign Hereditary cancer-predisposing syndrome 2015-10-14 criteria provided, single submitter clinical testing
GeneDx RCV000212252 SCV000210402 uncertain significance not provided 2018-12-17 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.6714T>G at the cDNA level, p.Asp2238Glu (D2238E) at the protein level, and results in the change of an Aspartic Acid to a Glutamic Acid (GAT>GAG). Using alternate nomenclature, this variant would be defined as BRCA2 6942T>G. This variant has not, to our knowledge, been published in the literature as a pathogenic or benign germline variant. BRCA2 Asp2238Glu was not observed at a significant allele frequency 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 that this variant does not alter protein structure/function. Based on currently available evidence, it is unclear whether BRCA2 Asp2238Glu is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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