rs80359062

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

13

Position

32363367

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359062
dbSNP (classic)	rs80359062
ClinGen	rs80359062
ebi	rs80359062
HLI	rs80359062
Exac	rs80359062
Gnomad	rs80359062
Varsome	rs80359062
LitVar	rs80359062
Map	rs80359062
PheGenI	rs80359062
Biobank	rs80359062
1000 genomes	rs80359062
hgdp	rs80359062
ensembl	rs80359062
geneview	rs80359062
scholar	rs80359062
google	rs80359062
pharmgkb	rs80359062
gwascentral	rs80359062
openSNP	rs80359062
23andMe	rs80359062
SNPshot	rs80359062
SNPdbe	rs80359062
MSV3d	rs80359062
GWAS Ctlg	rs80359062

Max Magnitude

6

rs80359062, also known as c.8165C>G or p.Thr2722Arg, is a rare mutation in the BRCA2 gene.

The minor/rare allele is considered pathogenic for breast cancer by ClinVar.

OMIM	600185
Desc
Variant	0025
Related	also

ClinVar
Risk	rs80359062(A;A) Rs80359062(G;G)
Alt	rs80359062(A;A) Rs80359062(G;G)
Reference	Rs80359062(C;C)
Significance	Pathogenic
Disease	Hereditary cancer-predisposing syndrome Breast-ovarian cancer Familial cancer of breast BRCA2-Related Disorders not provided
Variation	info
Gene	BRCA2
CLNDBN	Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 2 Familial cancer of breast BRCA2-Related Disorders not provided
Reversed	0
HGVS	NC_000013.10:g.32937504C>A; NC_000013.10:g.32937504C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000219871.1, RCV000031723.6, RCV000045435.2, RCV000163026.1, RCV000405476.1, RCV000414368.1,