rs80357511

minus

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

Make rs80357511(G;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43092337

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357511
dbSNP (classic)	rs80357511
ClinGen	rs80357511
ebi	rs80357511
HLI	rs80357511
Exac	rs80357511
Gnomad	rs80357511
Varsome	rs80357511
LitVar	rs80357511
Map	rs80357511
PheGenI	rs80357511
Biobank	rs80357511
1000 genomes	rs80357511
hgdp	rs80357511
ensembl	rs80357511
geneview	rs80357511
scholar	rs80357511
google	rs80357511
pharmgkb	rs80357511
gwascentral	rs80357511
openSNP	rs80357511
23andMe	rs80357511
SNPshot	rs80357511
SNPdbe	rs80357511
MSV3d	rs80357511
GWAS Ctlg	rs80357511

Max Magnitude

6

rs80357511, also known as 3312insG, c.3193_3194insG and p.Asp1065?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357511(G;G)
Alt	rs80357511(G;G)
Reference	Rs80357511(-;-)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Reversed	1
HGVS	NC_000017.10:g.41244355dupC
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000031095.6, RCV000048099.3, RCV000216425.1, RCV000235794.1,