rs80357310

Orientation

minus

Stabilized

minus

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

Make rs80357310(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43091870

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357310
dbSNP (classic)	rs80357310
ClinGen	rs80357310
ebi	rs80357310
HLI	rs80357310
Exac	rs80357310
Gnomad	rs80357310
Varsome	rs80357310
LitVar	rs80357310
Map	rs80357310
PheGenI	rs80357310
Biobank	rs80357310
1000 genomes	rs80357310
hgdp	rs80357310
ensembl	rs80357310
geneview	rs80357310
scholar	rs80357310
google	rs80357310
pharmgkb	rs80357310
gwascentral	rs80357310
openSNP	rs80357310
23andMe	rs80357310
SNPshot	rs80357310
SNPdbe	rs80357310
MSV3d	rs80357310
GWAS Ctlg	rs80357310

Max Magnitude

6

rs80357310, also known as E1221X, c.3661G>T and p.Glu1221Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

23andMe name: i5010150

ClinVar
Risk	rs80357310(C;C) rs80357310(T;T)
Alt	rs80357310(C;C) rs80357310(T;T)
Reference	Rs80357310(G;G)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Neoplasm of breast Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	BRCA1
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Neoplasm of breast Hereditary cancer-predisposing syndrome not provided
Reversed	1
HGVS	NC_000017.10:g.41243887C>A
CLNSRC	ClinVar University of Washington
CLNACC	RCV000048276.5, RCV000112149.3, RCV000148388.1, RCV000162864.1, RCV000258961.1,