ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9538C>T (p.Leu3180Phe) (rs200598289)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165783 SCV000216528 uncertain significance Hereditary cancer-predisposing syndrome 2018-05-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Breast Cancer Information Core (BIC) (BRCA2) RCV000077472 SCV000147663 uncertain significance Breast-ovarian cancer, familial 2 2010-09-18 no assertion criteria provided clinical testing
Color RCV000165783 SCV000684069 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing
Counsyl RCV000077472 SCV000785683 uncertain significance Breast-ovarian cancer, familial 2 2017-11-01 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765145 SCV000896371 uncertain significance Familial cancer of breast; Breast-ovarian cancer, familial 2; Fanconi anemia, complementation group D1; Medulloblastoma; Wilms tumor 1; Malignant tumor of prostate; Pancreatic cancer 2; Glioma susceptibility 3 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000482475 SCV000567649 uncertain significance not provided 2018-01-25 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.9538C>T at the cDNA level, p.Leu3180Phe (L3180F) at the protein level, and results in the change of a Leucine to a Phenylalanine (CTT>TTT). Using alternate nomenclature, this variant would be defined as BRCA2 9766C>T. This variant was detected in 1/2089 breast cancer cases and 2/1448 controls in a study of multi-ethnic Asian individuals (Lai 2017). BRCA2 Leu3180Phe was not observed at a significant allele frequency in large population cohorts (Lek 2016). This variant is located in the DNA binding domain (Yang 2002). 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 Leu3180Phe is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000482475 SCV000887969 uncertain significance not provided 2018-08-22 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077472 SCV000109270 uncertain significance Breast-ovarian cancer, familial 2 2012-06-12 no assertion criteria provided clinical testing

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