ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.551T>C (p.Leu184Pro) (rs80358775)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breast Cancer Information Core (BIC) (BRCA2) RCV000031552 SCV000147127 uncertain significance Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
Counsyl RCV000031552 SCV000785569 uncertain significance Breast-ovarian cancer, familial 2 2017-09-20 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000031552 SCV000575753 uncertain significance Breast-ovarian cancer, familial 2 2016-01-27 criteria provided, single submitter clinical testing
GeneDx RCV000200973 SCV000210246 uncertain significance not provided 2018-09-19 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.551T>C at the cDNA level, p.Leu184Pro (L184P) at the protein level, and results in the change of a Leucine to a Proline (CTA>CCA). Using alternate nomenclature, this variant would be defined as BRCA2 779T>C. This variant was observed in a Japanese woman with epithelial ovarian cancer, in three other Japanese individuals referred for BRCA1/2 testing, and in an individual with pancreatic cancer (Sekine 2001, Arai 2017, Takeuchi 2018). This variant was reported to not increase exon skipping in a minigene reporter assay (Di Giacomo 2013). BRCA2 Leu184Pro 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 Leu184Pro is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Sharing Clinical Reports Project (SCRP) RCV000031552 SCV000054157 likely benign Breast-ovarian cancer, familial 2 2012-10-24 no assertion criteria provided clinical testing

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