ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6148G>A (p.Val2050Ile) (rs80358854)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Molecular Diagnosis of Cancer,West China Hospital, Sichuan University RCV000240684 SCV000265935 uncertain significance Neoplasm of the breast 2015-11-01 criteria provided, single submitter research
Ambry Genetics RCV000510133 SCV000607851 uncertain significance Hereditary cancer-predisposing syndrome 2019-02-07 criteria provided, single submitter clinical testing Insufficient evidence
Fulgent Genetics,Fulgent Genetics RCV000763893 SCV000894828 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
Color RCV000510133 SCV000906924 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-24 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV001194410 SCV001363945 uncertain significance not specified 2019-08-16 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.6148G>A (p.Val2050Ile) results in a conservative amino acid change located in the BRCA2 repeat region (IPR002093) of the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 1.7e-05 in 298992 control chromosomes (gnomAD and publication data). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. The variant, c.6148G>A, has been reported in the literature in two Chinese individuals affected with breast cancer (Suter_2004, Zhong_2016). The variant was also reported in a large case-control association study, involving unselected breast cancer (BrC) patients and controls of Japanese ancestry, and was found in 5 healthy (3/11241 female, 2/12490 male) controls and in none of the affected cases (7051 female and 53 male) (Momozawa_2018). These reports do not provide unequivocal conclusions about association of the variant with Breast and Ovarian Cancer. Co-occurrence with other pathogenic variant have been reported (BRCA1 c.4485-2A>G, in an internal LCA sample), providing supporting evidence for a benign role. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Four clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, and all of them classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as VUS-possibly benign.
Sharing Clinical Reports Project (SCRP) RCV000083123 SCV000115197 uncertain significance Breast-ovarian cancer, familial 2 2012-05-01 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000083123 SCV000146779 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing

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