ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7241C>T (p.Ser2414Leu) (rs80358951)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000566196 SCV000665948 uncertain significance Hereditary cancer-predisposing syndrome 2017-05-12 criteria provided, single submitter clinical testing The p.S2414L variant (also known as c.7241C>T), located in coding exon 13 of the BRCA2 gene, results from a C to T substitution at nucleotide position 7241. The serine at codon 2414 is replaced by leucine, an amino acid with dissimilar properties. A homology-directed repair activity assay showed that this alteration has no effect on BRCA2 function (Guidugli L et al. Cancer Res. 2013 Jan 1;73(1):265-75). This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Color Health, Inc RCV000566196 SCV000908257 likely benign Hereditary cancer-predisposing syndrome 2015-08-11 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113737 SCV000147057 uncertain significance Breast-ovarian cancer, familial 2 2003-12-23 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.