ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.1273_1274del (p.Glu425fs)

dbSNP: rs1555281805
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
Donald Williams Parsons Laboratory, Baylor College of Medicine RCV000505606 SCV000599927 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2013-05-18 no assertion criteria provided research This frameshift variant is categorized as deleterious according to ACMG guidelines (PMID:18414213). It was found once in this study paternally inherited in a 1-year-old male with Ewing sarcoma, short stature, thrombocytopenia, mild anemia, and paternal family history of breast and ovarian cancer diagnosed in 60s.

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.