rs80357292

Orientation

minus

Stabilized

minus

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

Make rs80357292(A;A)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43094569

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357292
dbSNP (classic)	rs80357292
ClinGen	rs80357292
ebi	rs80357292
HLI	rs80357292
Exac	rs80357292
Gnomad	rs80357292
Varsome	rs80357292
LitVar	rs80357292
Map	rs80357292
PheGenI	rs80357292
Biobank	rs80357292
1000 genomes	rs80357292
hgdp	rs80357292
ensembl	rs80357292
geneview	rs80357292
scholar	rs80357292
google	rs80357292
pharmgkb	rs80357292
gwascentral	rs80357292
openSNP	rs80357292
23andMe	rs80357292
SNPshot	rs80357292
SNPdbe	rs80357292
MSV3d	rs80357292
GWAS Ctlg	rs80357292

Max Magnitude

6

rs80357292, also known as W321X, c.962G>A and p.Trp321Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357292(A;A)
Alt	rs80357292(A;A)
Reference	Rs80357292(G;G)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome not specified
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome not specified
Reversed	1
HGVS	NC_000017.10:g.41246586C>T
CLNSRC	Children's Hospital of Eastern Ontario
CLNACC	RCV000031293.8, RCV000049204.5, RCV000159948.3, RCV000162891.2, RCV000239176.1,