ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9257-8C>T (rs11571819)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000773110 SCV000906591 likely benign Hereditary cancer-predisposing syndrome 2016-05-18 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000780036 SCV000917050 uncertain significance not specified 2018-11-23 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.9257-8C>T 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 on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 1.7e-05 in 239818 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.9257-8C>T has been reported in the literature twice in individuals with personal and family history of Hereditary Breast and Ovarian Cancer (Lu_2012, Hansen_2009). These report(s) do not provide unequivocal conclusions about association of the variant with Hereditary Breast and Ovarian Cancer. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. A ClinVar submission from a clinical diagnostic laboratory (evaluation after 2014) cites the variant as likely benign. Based on the evidence outlined above, the variant was classified as uncertain significance.
Invitae RCV000196992 SCV000253058 likely benign Hereditary breast and ovarian cancer syndrome 2016-12-19 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759690 SCV000889183 likely benign not provided 2018-03-23 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077038 SCV000108835 uncertain significance Breast-ovarian cancer, familial 2 2012-02-10 no assertion criteria provided clinical testing

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.