rs80359144

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 rs80359144(A;A)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32379495

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359144
dbSNP (old)	rs80359144
ClinGen	rs80359144
ebi	rs80359144
HLI	rs80359144
Exac	rs80359144
Gnomad	rs80359144
Varsome	rs80359144
Map	rs80359144
PheGenI	rs80359144
Biobank	rs80359144
1000 genomes	rs80359144
hgdp	rs80359144
ensembl	rs80359144
gopubmed	rs80359144
geneview	rs80359144
scholar	rs80359144
google	rs80359144
pharmgkb	rs80359144
gwascentral	rs80359144
openSNP	rs80359144
23andMe	rs80359144
23andMe all	rs80359144
SNP Nexus
SNPshot	rs80359144
SNPdbe	rs80359144
MSV3d	rs80359144
GWAS Ctlg	rs80359144

Max Magnitude

6

rs80359144, also known as S2978X, c.8933C>A and p.Ser2978Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359144(A;A) rs80359144(G;G)
Alt	rs80359144(A;A) rs80359144(G;G)
Reference	Rs80359144(C;C)
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.32953632C>A; NC_000013.10:g.32953632C>G
CLNSRC	ClinVar
CLNACC	RCV000045660.2, RCV000114016.3, RCV000449077.1, RCV000077645.3,