ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4316C>A (p.Ala1439Asp) (rs80358667)

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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 RCV000131416 SCV000186394 uncertain significance Hereditary cancer-predisposing syndrome 2018-01-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Breast Cancer Information Core (BIC) (BRCA2) RCV000031474 SCV000146406 uncertain significance Breast-ovarian cancer, familial 2 2001-10-29 no assertion criteria provided clinical testing
Color RCV000131416 SCV000903865 likely benign Hereditary cancer-predisposing syndrome 2016-03-08 criteria provided, single submitter clinical testing
GeneDx RCV000656795 SCV000210334 uncertain significance not provided 2018-08-23 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.4316C>A at the cDNA level, p.Ala1439Asp (A1439D) at the protein level, and results in the change of an Alanine to an Aspartic Acid (GCC>GAC). This variant was observed in at least three individuals with a personal and/or family history of breast and ovarian cancer (Vogel 2007, Ruiz 2014, Gabaldo Barrios 2017). BRCA2 Ala1439Asp was not observed at a significant allele frequency in large population cohorts (Lek 2016). This variant is located in the BRC3 domain and the region of interaction with RAD51 and POLH (Cole 2011, Roy 2012, Buisson 2014). 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 Ala1439Asp is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000212234 SCV000600583 uncertain significance not specified 2017-03-25 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031474 SCV000054079 uncertain significance Breast-ovarian cancer, familial 2 2011-10-18 no assertion criteria provided clinical testing

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