rs80358476

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	6	BRCA2 variant considered pathogenic for breast cancer

Make rs80358476(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32333333

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358476
dbSNP (classic)	rs80358476
ClinGen	rs80358476
ebi	rs80358476
HLI	rs80358476
Exac	rs80358476
Gnomad	rs80358476
Varsome	rs80358476
LitVar	rs80358476
Map	rs80358476
PheGenI	rs80358476
Biobank	rs80358476
1000 genomes	rs80358476
hgdp	rs80358476
ensembl	rs80358476
geneview	rs80358476
scholar	rs80358476
google	rs80358476
pharmgkb	rs80358476
gwascentral	rs80358476
openSNP	rs80358476
23andMe	rs80358476
SNPshot	rs80358476
SNPdbe	rs80358476
MSV3d	rs80358476
GWAS Ctlg	rs80358476

Max Magnitude

6

rs80358476, also known as Q619X, c.1855C>T and p.Gln619Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358476(T;T)
Alt	rs80358476(T;T)
Reference	Rs80358476(C;C)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	BRCA2
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not provided
Reversed	0
HGVS	NC_000013.10:g.32907470C>T
CLNSRC	ClinVar
CLNACC	RCV000043911.5, RCV000112988.3, RCV000216070.1, RCV000254954.1,