rs80358711

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 rs80358711(G;G)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32339244

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358711
dbSNP (classic)	rs80358711
ClinGen	rs80358711
ebi	rs80358711
HLI	rs80358711
Exac	rs80358711
Gnomad	rs80358711
Varsome	rs80358711
LitVar	rs80358711
Map	rs80358711
PheGenI	rs80358711
Biobank	rs80358711
1000 genomes	rs80358711
hgdp	rs80358711
ensembl	rs80358711
geneview	rs80358711
scholar	rs80358711
google	rs80358711
pharmgkb	rs80358711
gwascentral	rs80358711
openSNP	rs80358711
23andMe	rs80358711
SNPshot	rs80358711
SNPdbe	rs80358711
MSV3d	rs80358711
GWAS Ctlg	rs80358711

Max Magnitude

6

rs80358711, also known as S1630X, c.4889C>G and p.Ser1630Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

23andMe name for c.4889C>G: i5009395

ClinVar
Risk	rs80358711(A;A) rs80358711(G;G)
Alt	rs80358711(A;A) rs80358711(G;G)
Reference	Rs80358711(C;C)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	BRCA2
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Reversed	0
HGVS	NC_000013.10:g.32913381C>A; NC_000013.10:g.32913381C>G
CLNSRC	ClinVar Ambry Genetics
CLNACC	RCV000044511.2, RCV000257254.1, RCV000044512.3, RCV000077340.6, RCV000131080.2, RCV000255089.2,