ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6991A>G (p.Thr2331Ala) (rs80358926)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000113682 SCV000296555 uncertain significance Breast-ovarian cancer, familial 2 2016-03-25 criteria provided, single submitter clinical testing
GeneDx RCV000478820 SCV000565796 uncertain significance not provided 2018-11-26 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.6991A>G at the cDNA level, p.Thr2331Ala (T2331A) at the protein level, and results in the change of a Threonine to an Alanine (ACC>GCC). Using alternate nomenclature, this variant would be defined as BRCA2 7219A>G. This variant has not, to our knowledge, been published in the literature as a pathogenic or benign germline variant. BRCA2 Thr2331Ala 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 that this variant does not alter protein structure/function. Based on currently available evidence, it is unclear whether BRCA2 Thr2331Ala is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Ambry Genetics RCV000561119 SCV000665953 uncertain significance Hereditary cancer-predisposing syndrome 2018-01-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Counsyl RCV000113682 SCV000785610 uncertain significance Breast-ovarian cancer, familial 2 2017-10-10 criteria provided, single submitter clinical testing
Mendelics RCV000113682 SCV001139166 uncertain significance Breast-ovarian cancer, familial 2 2019-05-28 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113682 SCV000146987 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing

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