rs80356898

Orientation

minus

Stabilized

minus

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

Make rs80356898(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43093844

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80356898
dbSNP (classic)	rs80356898
ClinGen	rs80356898
ebi	rs80356898
HLI	rs80356898
Exac	rs80356898
Gnomad	rs80356898
Varsome	rs80356898
LitVar	rs80356898
Map	rs80356898
PheGenI	rs80356898
Biobank	rs80356898
1000 genomes	rs80356898
hgdp	rs80356898
ensembl	rs80356898
geneview	rs80356898
scholar	rs80356898
google	rs80356898
pharmgkb	rs80356898
gwascentral	rs80356898
openSNP	rs80356898
23andMe	rs80356898
SNPshot	rs80356898
SNPdbe	rs80356898
MSV3d	rs80356898
GWAS Ctlg	rs80356898

Max Magnitude

6

rs80356898, also known as Q563X, c.1687C>T and p.Gln563Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

23andMe name: i6051897

ClinVar
Risk	rs80356898(T;T)
Alt	rs80356898(T;T)
Reference	Rs80356898(C;C)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided Ovarian cancer Breast carcinoma Ovarian neoplasm
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided Ovarian cancer Breast carcinoma Ovarian neoplasm
Reversed	1
HGVS	NC_000017.10:g.41245861G>A
CLNSRC	Ambry Genetics ClinVar
CLNACC	RCV000031007.10, RCV000047559.6, RCV000131897.4, RCV000159956.3, RCV000238721.1, RCV000415155.1,