ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7130T>C (p.Val2377Ala)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004519918 SCV005029331 uncertain significance Hereditary cancer-predisposing syndrome 2024-01-26 criteria provided, single submitter clinical testing The p.V2377A variant (also known as c.7130T>C), located in coding exon 13 of the BRCA2 gene, results from a T to C substitution at nucleotide position 7130. The valine at codon 2377 is replaced by alanine, an amino acid with similar properties. This alteration was identified in an unselected cohort of 367 female breast cancer patients (Lattimore V et al. Breast Cancer Res Treat, 2021 Feb;185:583-590). 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. Based on the available evidence, the clinical significance of this alteration remains unclear.

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.