rs80357115

Orientation

minus

Stabilized

minus

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

Make rs80357115(G;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43092597

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357115
dbSNP (classic)	rs80357115
ClinGen	rs80357115
ebi	rs80357115
HLI	rs80357115
Exac	rs80357115
Gnomad	rs80357115
Varsome	rs80357115
LitVar	rs80357115
Map	rs80357115
PheGenI	rs80357115
Biobank	rs80357115
1000 genomes	rs80357115
hgdp	rs80357115
ensembl	rs80357115
geneview	rs80357115
scholar	rs80357115
google	rs80357115
pharmgkb	rs80357115
gwascentral	rs80357115
openSNP	rs80357115
23andMe	rs80357115
SNPshot	rs80357115
SNPdbe	rs80357115
MSV3d	rs80357115
GWAS Ctlg	rs80357115

Max Magnitude

6

rs80357115, also known as Y978X, c.2934T>G and p.Tyr978Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

23andMe name: i5010190

ClinVar
Risk	rs80357115(G;G)
Alt	rs80357115(G;G)
Reference	Rs80357115(T;T)
Significance	Pathogenic
Disease	Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed	1
HGVS	NC_000017.10:g.41244614A>C
CLNSRC	Children's Hospital of Eastern Ontario
CLNACC	RCV000031074.9, RCV000048017.6, RCV000162860.2, RCV000195361.4,