rs80356875

Orientation

minus

Stabilized

minus

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

Make rs80356875(A;A)

Make rs80356875(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43093373

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80356875
dbSNP (classic)	rs80356875
ClinGen	rs80356875
ebi	rs80356875
HLI	rs80356875
Exac	rs80356875
Gnomad	rs80356875
Varsome	rs80356875
LitVar	rs80356875
Map	rs80356875
PheGenI	rs80356875
Biobank	rs80356875
1000 genomes	rs80356875
hgdp	rs80356875
ensembl	rs80356875
geneview	rs80356875
scholar	rs80356875
google	rs80356875
pharmgkb	rs80356875
gwascentral	rs80356875
openSNP	rs80356875
23andMe	rs80356875
SNPshot	rs80356875
SNPdbe	rs80356875
MSV3d	rs80356875
GWAS Ctlg	rs80356875

Max Magnitude

6

rs80356875, also known as E720X, c.2158G>T and p.Glu720Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

23andMe name: i5010223

ClinVar
Risk	rs80356875(A;A) rs80356875(T;T)
Alt	rs80356875(A;A) rs80356875(T;T)
Reference	Rs80356875(G;G)
Significance	Pathogenic
Disease	Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Familial cancer of breast Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000017.10:g.41245390C>A; NC_000017.10:g.41245390C>T
CLNSRC	ClinVar
CLNACC	RCV000031034.6, RCV000047737.2, RCV000162852.1, RCV000047736.2, RCV000077506.3, RCV000164061.1,