rs80359048

Orientation

plus

Stabilized

plus

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

Make rs80359048(G;G)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32363286

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359048
dbSNP (classic)	rs80359048
ClinGen	rs80359048
ebi	rs80359048
HLI	rs80359048
Exac	rs80359048
Gnomad	rs80359048
Varsome	rs80359048
LitVar	rs80359048
Map	rs80359048
PheGenI	rs80359048
Biobank	rs80359048
1000 genomes	rs80359048
hgdp	rs80359048
ensembl	rs80359048
geneview	rs80359048
scholar	rs80359048
google	rs80359048
pharmgkb	rs80359048
gwascentral	rs80359048
openSNP	rs80359048
23andMe	rs80359048
SNPshot	rs80359048
SNPdbe	rs80359048
MSV3d	rs80359048
GWAS Ctlg	rs80359048

Max Magnitude

6

rs80359048, also known as S2695X, c.8084C>G and p.Ser2695Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359048(G;G) rs80359048(T;T)
Alt	rs80359048(G;G) rs80359048(T;T)
Reference	Rs80359048(C;C)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer not specified
Variation	info
Gene	BRCA2
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 2 not specified
Reversed	0
HGVS	NC_000013.10:g.32937423C>G; NC_000013.10:g.32937423C>T
CLNSRC	ClinVar
CLNACC	RCV000045416.2, RCV000113868.3, RCV000045417.2, RCV000113869.1, RCV000479008.1,