ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.5222G>C (p.Ser1741Thr)

dbSNP: rs1555284119
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000573047 SCV000668729 uncertain significance Hereditary cancer-predisposing syndrome 2016-12-06 criteria provided, single submitter clinical testing The p.S1741T variant (also known as c.5222G>C), located in coding exon 10 of the BRCA2 gene, results from a G to C substitution at nucleotide position 5222. The serine at codon 1741 is replaced by threonine, an amino acid with similar properties. 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.
University of Washington Department of Laboratory Medicine, University of Washington RCV000573047 SCV003847092 likely benign Hereditary cancer-predisposing syndrome 2023-03-23 criteria provided, single submitter curation Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).

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.