rs80359068

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 rs80359068(G;G)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32332296

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359068
dbSNP (classic)	rs80359068
ClinGen	rs80359068
ebi	rs80359068
HLI	rs80359068
Exac	rs80359068
Gnomad	rs80359068
Varsome	rs80359068
LitVar	rs80359068
Map	rs80359068
PheGenI	rs80359068
Biobank	rs80359068
1000 genomes	rs80359068
hgdp	rs80359068
ensembl	rs80359068
geneview	rs80359068
scholar	rs80359068
google	rs80359068
pharmgkb	rs80359068
gwascentral	rs80359068
openSNP	rs80359068
23andMe	rs80359068
SNPshot	rs80359068
SNPdbe	rs80359068
MSV3d	rs80359068
GWAS Ctlg	rs80359068

Max Magnitude

6

rs80359068, also known as S273X, c.818C>G and p.Ser273Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359068(A;A) rs80359068(G;G) rs80359068(T;T)
Alt	rs80359068(A;A) rs80359068(G;G) rs80359068(T;T)
Reference	Rs80359068(C;C)
Significance	Pathogenic
Disease	Familial cancer of breast Hereditary cancer-predisposing syndrome Breast-ovarian cancer
Variation	info
Gene	BRCA2
CLNDBN	Familial cancer of breast Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 2
Reversed	0
HGVS	NC_000013.10:g.32906433C>A; NC_000013.10:g.32906433C>G
CLNSRC	ClinVar
CLNACC	RCV000045447.2, RCV000219107.1, RCV000239330.2, RCV000045448.2, RCV000112854.3,