rs80358419

Orientation

plus

Stabilized

plus

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

Make rs80358419(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32332739

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358419
dbSNP (classic)	rs80358419
ClinGen	rs80358419
ebi	rs80358419
HLI	rs80358419
Exac	rs80358419
Gnomad	rs80358419
Varsome	rs80358419
LitVar	rs80358419
Map	rs80358419
PheGenI	rs80358419
Biobank	rs80358419
1000 genomes	rs80358419
hgdp	rs80358419
ensembl	rs80358419
geneview	rs80358419
scholar	rs80358419
google	rs80358419
pharmgkb	rs80358419
gwascentral	rs80358419
openSNP	rs80358419
23andMe	rs80358419
SNPshot	rs80358419
SNPdbe	rs80358419
MSV3d	rs80358419
GWAS Ctlg	rs80358419

Max Magnitude

6

rs80358419, also known as Q421X, c.1261C>T and p.Gln421Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358419(G;G) rs80358419(T;T)
Alt	rs80358419(G;G) rs80358419(T;T)
Reference	Rs80358419(C;C)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary cancer-predisposing syndrome Familial cancer of breast
Variation	info
Gene	BRCA2
CLNDBN	Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome Familial cancer of breast
Reversed	0
HGVS	NC_000013.10:g.32906876C>G; NC_000013.10:g.32906876C>T
CLNSRC	ClinVar Ambry Genetics
CLNACC	RCV000077657.2, RCV000223427.1, RCV000043769.2, RCV000112900.3, RCV000131850.3,