ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.676A>G (p.Thr226Ala) (rs80358902)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breast Cancer Information Core (BIC) (BRCA2) RCV000083130 SCV000147467 uncertain significance Breast-ovarian cancer, familial 2 2003-12-23 no assertion criteria provided clinical testing
GeneDx RCV000657115 SCV000279840 uncertain significance not provided 2018-04-05 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.676A>G at the cDNA level, p.Thr226Ala (T226A) at the protein level, and results in the change of a Threonine to an Alanine (ACT>GCT). Using alternate nomenclature, this variant would be defined as BRCA2 904A>G. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA2 Thr226Ala 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 Thr226Ala is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000168538 SCV000600717 uncertain significance not specified 2016-09-30 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000083130 SCV000115204 uncertain significance Breast-ovarian cancer, familial 2 2008-12-26 no assertion criteria provided clinical testing

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