rs80357321

Orientation

minus

Stabilized

minus

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

Make rs80357321(G;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43094748

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357321
dbSNP (classic)	rs80357321
ClinGen	rs80357321
ebi	rs80357321
HLI	rs80357321
Exac	rs80357321
Gnomad	rs80357321
Varsome	rs80357321
LitVar	rs80357321
Map	rs80357321
PheGenI	rs80357321
Biobank	rs80357321
1000 genomes	rs80357321
hgdp	rs80357321
ensembl	rs80357321
geneview	rs80357321
scholar	rs80357321
google	rs80357321
pharmgkb	rs80357321
gwascentral	rs80357321
openSNP	rs80357321
23andMe	rs80357321
SNPshot	rs80357321
SNPdbe	rs80357321
MSV3d	rs80357321
GWAS Ctlg	rs80357321

Max Magnitude

6

rs80357321, also known as Y261X, c.783T>G and p.Tyr261Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

23andMe name: i5010292

ClinVar
Risk	rs80357321(G;G)
Alt	rs80357321(G;G)
Reference	Rs80357321(T;T)
Significance	Pathogenic
Disease	Breast-ovarian cancer Familial cancer of breast not provided
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Familial cancer of breast not provided
Reversed	1
HGVS	NC_000017.10:g.41246765A>C
CLNSRC	ClinVar
CLNACC	RCV000031278.6, RCV000049129.4, RCV000212162.1,