rs80358623

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;C)	6	Possible miscall in Ancestry v2 data; otherwise, BRCA2 variant considered pathogenic for breast cancer
(C;C)	0	common in clinvar
(C;G)	6	BRCA2 variant considered pathogenic for breast cancer

Make rs80358623(A;A)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32338167

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358623
dbSNP (classic)	rs80358623
ClinGen	rs80358623
ebi	rs80358623
HLI	rs80358623
Exac	rs80358623
Gnomad	rs80358623
Varsome	rs80358623
LitVar	rs80358623
Map	rs80358623
PheGenI	rs80358623
Biobank	rs80358623
1000 genomes	rs80358623
hgdp	rs80358623
ensembl	rs80358623
geneview	rs80358623
scholar	rs80358623
google	rs80358623
pharmgkb	rs80358623
gwascentral	rs80358623
openSNP	rs80358623
23andMe	rs80358623
SNPshot	rs80358623
SNPdbe	rs80358623
MSV3d	rs80358623
GWAS Ctlg	rs80358623

Max Magnitude

6

rs80358623, also known as S1271X, c.3812C>A and p.Ser1271Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358623(A;A) rs80358623(G;G)
Alt	rs80358623(A;A) rs80358623(G;G)
Reference	Rs80358623(C;C)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer
Variation	info
Gene	BRCA2
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed	0
HGVS	NC_000013.10:g.32912304C>A; NC_000013.10:g.32912304C>G
CLNSRC	ClinVar
CLNACC	RCV000044270.2, RCV000113222.2, RCV000256517.2,