rs80357554

minus

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

Make rs80357554(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43093457

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357554
dbSNP (classic)	rs80357554
ClinGen	rs80357554
ebi	rs80357554
HLI	rs80357554
Exac	rs80357554
Gnomad	rs80357554
Varsome	rs80357554
LitVar	rs80357554
Map	rs80357554
PheGenI	rs80357554
Biobank	rs80357554
1000 genomes	rs80357554
hgdp	rs80357554
ensembl	rs80357554
geneview	rs80357554
scholar	rs80357554
google	rs80357554
pharmgkb	rs80357554
gwascentral	rs80357554
openSNP	rs80357554
23andMe	rs80357554
SNPshot	rs80357554
SNPdbe	rs80357554
MSV3d	rs80357554
GWAS Ctlg	rs80357554

Max Magnitude

6

rs80357554, also known as 2193delC, c.2074_2074delC and p.His692Metfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357554(-;-)
Alt	rs80357554(-;-)
Reference	Rs80357554(C;C)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41245474delG
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000047700.2, RCV000111757.3,