rs80357909

minus

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

Make rs80357909(G;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43093294

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357909
dbSNP (classic)	rs80357909
ClinGen	rs80357909
ebi	rs80357909
HLI	rs80357909
Exac	rs80357909
Gnomad	rs80357909
Varsome	rs80357909
LitVar	rs80357909
Map	rs80357909
PheGenI	rs80357909
Biobank	rs80357909
1000 genomes	rs80357909
hgdp	rs80357909
ensembl	rs80357909
geneview	rs80357909
scholar	rs80357909
google	rs80357909
pharmgkb	rs80357909
gwascentral	rs80357909
openSNP	rs80357909
23andMe	rs80357909
SNPshot	rs80357909
SNPdbe	rs80357909
MSV3d	rs80357909
GWAS Ctlg	rs80357909

Max Magnitude

6

rs80357909, also known as 2355insG, c.2236_2237insG and p.Asp746?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357909(G;G)
Alt	rs80357909(G;G)
Reference	Rs80357909(-;-)
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.41245312dupC
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000047769.2, RCV000111805.2,