rs80358641

Orientation

plus

Stabilized

plus

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

Make rs80358641(A;A)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32338294

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358641
dbSNP (classic)	rs80358641
ClinGen	rs80358641
ebi	rs80358641
HLI	rs80358641
Exac	rs80358641
Gnomad	rs80358641
Varsome	rs80358641
LitVar	rs80358641
Map	rs80358641
PheGenI	rs80358641
Biobank	rs80358641
1000 genomes	rs80358641
hgdp	rs80358641
ensembl	rs80358641
geneview	rs80358641
scholar	rs80358641
google	rs80358641
pharmgkb	rs80358641
gwascentral	rs80358641
openSNP	rs80358641
23andMe	rs80358641
SNPshot	rs80358641
SNPdbe	rs80358641
MSV3d	rs80358641
GWAS Ctlg	rs80358641

Max Magnitude

6

rs80358641, also known as Y1313X, c.3939C>A and p.Tyr1313Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358641(A;A) rs80358641(G;G)
Alt	rs80358641(A;A) rs80358641(G;G)
Reference	Rs80358641(C;C)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer
Variation	info
Gene	BRCA2
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed	0
HGVS	NC_000013.10:g.32912431C>A; NC_000013.10:g.32912431C>G
CLNSRC	ClinVar
CLNACC	RCV000044317.2, RCV000113246.3, RCV000082922.4,