List of variants reported as pathogenic for breast carcinoma by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_007194.4(CHEK2):c.444+1G>A	rs121908698	0.00009
NM_007194.4(CHEK2):c.1368dup (p.Glu457fs)	rs730881700	0.00004
NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter)	rs587781269	0.00003
NM_032043.3(BRIP1):c.1372G>T (p.Glu458Ter)	rs587780228	0.00003
NM_000465.4(BARD1):c.1652C>G (p.Ser551Ter)	rs587781707	0.00001
NM_024675.4(PALB2):c.2386G>T (p.Gly796Ter)	rs180177112	0.00001
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter)	rs118203998	0.00001
NM_032043.3(BRIP1):c.2273dup (p.Ala759fs)	rs587780236	0.00001
NM_024675.4(PALB2):c.1037_1041del (p.Lys346fs)	rs587776410
NM_024675.4(PALB2):c.1424dup (p.Arg476fs)	rs1555461294
NM_024675.4(PALB2):c.2470dup (p.Cys824fs)	rs863224521
NM_024675.4(PALB2):c.2835-1G>C	rs515726099
NM_024675.4(PALB2):c.757_758del (p.Leu253fs)	rs180177092

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.