rs80356978

Orientation

minus

Stabilized

minus

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

Make rs80356978(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43092809

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80356978
dbSNP (classic)	rs80356978
ClinGen	rs80356978
ebi	rs80356978
HLI	rs80356978
Exac	rs80356978
Gnomad	rs80356978
Varsome	rs80356978
LitVar	rs80356978
Map	rs80356978
PheGenI	rs80356978
Biobank	rs80356978
1000 genomes	rs80356978
hgdp	rs80356978
ensembl	rs80356978
geneview	rs80356978
scholar	rs80356978
google	rs80356978
pharmgkb	rs80356978
gwascentral	rs80356978
openSNP	rs80356978
23andMe	rs80356978
SNPshot	rs80356978
SNPdbe	rs80356978
MSV3d	rs80356978
GWAS Ctlg	rs80356978

Max Magnitude

6

rs80356978, also known as E908X, c.2722G>T and p.Glu908Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80356978(A;A) rs80356978(T;T)
Alt	rs80356978(A;A) rs80356978(T;T)
Reference	Rs80356978(G;G)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome not provided Breast-ovarian cancer Hereditary cancer-predisposing syndrome Neoplasm of breast not specified
Variation	info
Gene	BRCA1
CLNDBN	Hereditary breast and ovarian cancer syndrome not provided Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome Neoplasm of breast not specified
Reversed	1
HGVS	NC_000017.10:g.41244826C>A
CLNSRC	Ambry Genetics ClinVar University of Washington
CLNACC	RCV000047943.4, RCV000074576.7, RCV000077527.6, RCV000131878.3, RCV000148387.1, RCV000239255.1,