List of variants in gene combination BRCA1, LOC126862571 reported as likely pathogenic for breast-ovarian cancer, familial, susceptibility to, 1

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

Total variants: 19

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_007294.4(BRCA1):c.3228_3229del (p.Gly1077fs)	rs80357635
NM_007294.4(BRCA1):c.3273dup (p.Glu1092Ter)
NM_007294.4(BRCA1):c.3285del (p.Lys1095fs)	rs397509051
NM_007294.4(BRCA1):c.3301dup (p.Ser1101fs)
NM_007294.4(BRCA1):c.3343G>T (p.Glu1115Ter)
NM_007294.4(BRCA1):c.3351dup (p.Gln1118fs)	rs80357785
NM_007294.4(BRCA1):c.3359_3360insG (p.Val1120_Asn1121insTer)	rs2154323689
NM_007294.4(BRCA1):c.3569del (p.Pro1190fs)	rs1555587497
NM_007294.4(BRCA1):c.3629dup (p.Ser1211fs)	rs886040154
NM_007294.4(BRCA1):c.3640G>T (p.Glu1214Ter)	rs80356923
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs)	rs80357868
NM_007294.4(BRCA1):c.3838del (p.Ser1280fs)
NM_007294.4(BRCA1):c.3853del (p.Ser1286fs)	rs397507222
NM_007294.4(BRCA1):c.3895C>T (p.Gln1299Ter)	rs80357038
NM_007294.4(BRCA1):c.3916_3917del (p.Leu1306fs)	rs80357678
NM_007294.4(BRCA1):c.4012A>T (p.Lys1338Ter)
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs)	rs80357508
NM_007294.4(BRCA1):c.4096+3A>G	rs80358015
Single allele

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.