ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5193+19A>G

dbSNP: rs1555578276
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000583504 SCV000688545 likely benign Hereditary cancer-predisposing syndrome 2017-02-02 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000779896 SCV000916793 uncertain significance not specified 2018-08-20 criteria provided, single submitter clinical testing Variant summary: BRCA1 c.5193+19A>G alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 5/5 computational tools predict no significant impact to normal splicing. However, these predictions have yet to be functionally assessed. The variant was absent in 245844 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.5193+19A>G in individuals affected with Hereditary Breast and Ovarian Cancer and no experimental evidence demonstrating its impact on protein function have been reported. A ClinVar submission from another clinical diagnostic laboratory (evaluation after 2014) cites the variant as likely benign. Based on the evidence outlined above, the variant was classified as VUS-possibly benign.
Invitae RCV000920541 SCV001065910 likely benign Hereditary breast ovarian cancer syndrome 2023-11-11 criteria provided, single submitter clinical testing
Brotman Baty Institute, University of Washington RCV001076178 SCV001241876 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.