rs80359183

Orientation

plus

Stabilized

plus

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

Make rs80359183(A;A)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32380096

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359183
dbSNP (classic)	rs80359183
ClinGen	rs80359183
ebi	rs80359183
HLI	rs80359183
Exac	rs80359183
Gnomad	rs80359183
Varsome	rs80359183
LitVar	rs80359183
Map	rs80359183
PheGenI	rs80359183
Biobank	rs80359183
1000 genomes	rs80359183
hgdp	rs80359183
ensembl	rs80359183
geneview	rs80359183
scholar	rs80359183
google	rs80359183
pharmgkb	rs80359183
gwascentral	rs80359183
openSNP	rs80359183
23andMe	rs80359183
SNPshot	rs80359183
SNPdbe	rs80359183
MSV3d	rs80359183
GWAS Ctlg	rs80359183

Max Magnitude

6

rs80359183, also known as C3069X, c.9207T>A and p.Cys3069Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359183(A;A) rs80359183(C;C)
Alt	rs80359183(A;A) rs80359183(C;C)
Reference	Rs80359183(T;T)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA2
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000013.10:g.32954233T>A; NC_000013.10:g.32954233T>C
CLNSRC	ClinVar
CLNACC	RCV000045747.2, RCV000114065.3, RCV000214550.1,