ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2173A>G (p.Ser725Gly)

dbSNP: rs1555590290
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
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000508351 SCV000600277 uncertain significance not specified 2017-01-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001051454 SCV001215608 benign Hereditary breast ovarian cancer syndrome 2023-01-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002431463 SCV002731415 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-11 criteria provided, single submitter clinical testing The p.S725G variant (also known as c.2173A>G), located in coding exon 9 of the BRCA1 gene, results from an A to G substitution at nucleotide position 2173. The serine at codon 725 is replaced by glycine, an amino acid with similar properties. 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 RCV002431463 SCV003849443 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.