ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7118G>A (p.Ser2373Asn)

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 RCV002378313 SCV002668313 uncertain significance Hereditary cancer-predisposing syndrome 2021-10-22 criteria provided, single submitter clinical testing The p.S2373N variant (also known as c.7118G>A), located in coding exon 13 of the BRCA2 gene, results from a G to A substitution at nucleotide position 7118. The serine at codon 2373 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
BRCAlab, Lund University RCV003493942 SCV004243755 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2020-03-02 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.