List of variants reported as pathogenic for breast disorder by 3DMed Clinical Laboratory Inc

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: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_007294.4(BRCA1):c.116G>A (p.Cys39Tyr)	rs80357498	0.00003
NM_024675.4(PALB2):c.2167_2168del (p.Met723fs)	rs587776416	0.00002
NM_000059.4(BRCA2):c.2595del (p.Glu866fs)	rs483353111
NM_000059.4(BRCA2):c.2828_2831del (p.Ile943fs)	rs397507643
NM_000059.4(BRCA2):c.2845del (p.Tyr949fs)	rs397507644
NM_000059.4(BRCA2):c.5879del (p.Cys1960fs)	rs1555284442
NM_000059.4(BRCA2):c.6085G>T (p.Glu2029Ter)	rs397507828
NM_007194.4(CHEK2):c.1128del (p.Glu377fs)	rs1555913881
NM_007294.4(BRCA1):c.1214C>G (p.Ser405Ter)	rs80357481
NM_007294.4(BRCA1):c.1465G>T (p.Glu489Ter)	rs80357167
NM_007294.4(BRCA1):c.3266del (p.Leu1089fs)	rs886040109
NM_007294.4(BRCA1):c.4120_4121del (p.Glu1373_Ser1374insTer)	rs80357787
NM_007294.4(BRCA1):c.4484+2T>C	rs1555582520
NM_007294.4(BRCA1):c.4801A>T (p.Lys1601Ter)	rs80357303
NM_007294.4(BRCA1):c.5156del (p.Val1719fs)	rs1057517590
NM_007294.4(BRCA1):c.5470_5477delATTGGGCA	rs80357973
NM_007294.4(BRCA1):c.981_982del (p.Thr327_Cys328insTer)	rs80357772

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.