rs80357874

minus

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

Make rs80357874(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43063900

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357874
dbSNP (classic)	rs80357874
ClinGen	rs80357874
ebi	rs80357874
HLI	rs80357874
Exac	rs80357874
Gnomad	rs80357874
Varsome	rs80357874
LitVar	rs80357874
Map	rs80357874
PheGenI	rs80357874
Biobank	rs80357874
1000 genomes	rs80357874
hgdp	rs80357874
ensembl	rs80357874
geneview	rs80357874
scholar	rs80357874
google	rs80357874
pharmgkb	rs80357874
gwascentral	rs80357874
openSNP	rs80357874
23andMe	rs80357874
SNPshot	rs80357874
SNPdbe	rs80357874
MSV3d	rs80357874
GWAS Ctlg	rs80357874

Max Magnitude

6

rs80357874, also known as 5245delG, c.5126_5126delG and p.Gly1709Glufs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357874(-;-)
Alt	rs80357874(-;-)
Reference	Rs80357874(G;G)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer not provided
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1 not provided
Reversed	1
HGVS	NC_000017.10:g.41215917delC
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048804.2, RCV000112501.3, RCV000478169.1,