rs397509050

minus

Geno	Mag	Summary
(-;C)	6	BRCA1 variant considered pathogenic for breast cancer
(C;C)	0	common in clinvar

Make rs397509050(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43092252

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs397509050
dbSNP (classic)	rs397509050
ClinGen	rs397509050
ebi	rs397509050
HLI	rs397509050
Exac	rs397509050
Gnomad	rs397509050
Varsome	rs397509050
LitVar	rs397509050
Map	rs397509050
PheGenI	rs397509050
Biobank	rs397509050
1000 genomes	rs397509050
hgdp	rs397509050
ensembl	rs397509050
geneview	rs397509050
scholar	rs397509050
google	rs397509050
pharmgkb	rs397509050
gwascentral	rs397509050
openSNP	rs397509050
23andMe	rs397509050
SNPshot	rs397509050
SNPdbe	rs397509050
MSV3d	rs397509050
GWAS Ctlg	rs397509050

Max Magnitude

6

rs397509050, also known as 3398delC, c.3279_3280delC and Tyr1094Ilefs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs397509050(-;-)
Alt	rs397509050(-;-)
Reference	Rs397509050(C;C)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not provided
Reversed	1
HGVS	NC_000017.10:g.41244269delG
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048120.2, RCV000112043.3, RCV000165817.1, RCV000482423.1,