List of variants reported as pathogenic for Breast-ovarian cancer, familial, susceptibility to, 3 by Hereditary Cancer Group, L’Institut d'Investigació Biomèdica de Bellvitge

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 17q22(chr17:56809845-56811583)
NM_058216.3(RAD51C):c.-13_14del (p.Met1_Thr5del)	rs2143670048
NM_058216.3(RAD51C):c.405_571del	rs2143742992
NM_058216.3(RAD51C):c.472dup (p.Ile158fs)	rs2143746162
NM_058216.3(RAD51C):c.522_523insC (p.Ala175fs)	rs2143748292
NM_058216.3(RAD51C):c.622_623del (p.Ile208fs)	rs876659497
NM_058216.3(RAD51C):c.635del (p.Arg212fs)	rs2143798753
NM_058216.3(RAD51C):c.656T>A (p.Leu219Ter)	rs201529791
NM_058216.3(RAD51C):c.672dup (p.Leu225fs)	rs2143800709
NM_058216.3(RAD51C):c.704dup (p.Val236fs)	rs1567794476
NM_058216.3(RAD51C):c.706_837+2del	rs2143849978
NM_058216.3(RAD51C):c.862del (p.Thr288fs)	rs2143930413
NM_058216.3(RAD51C):c.945dup (p.His316fs)	rs2143962519
NM_058216.3:c.1_705del
NM_058216.3:c.966_1027del
c.706-4423_1131+7851del;p.(Val236_Leu376delins11)

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.