rs80358579

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 rs80358579(A;A)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32337717

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358579
dbSNP (classic)	rs80358579
ClinGen	rs80358579
ebi	rs80358579
HLI	rs80358579
Exac	rs80358579
Gnomad	rs80358579
Varsome	rs80358579
LitVar	rs80358579
Map	rs80358579
PheGenI	rs80358579
Biobank	rs80358579
1000 genomes	rs80358579
hgdp	rs80358579
ensembl	rs80358579
geneview	rs80358579
scholar	rs80358579
google	rs80358579
pharmgkb	rs80358579
gwascentral	rs80358579
openSNP	rs80358579
23andMe	rs80358579
SNPshot	rs80358579
SNPdbe	rs80358579
MSV3d	rs80358579
GWAS Ctlg	rs80358579

Max Magnitude

6

rs80358579, also known as S1121X, c.3362C>G and p.Ser1121Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358579(A;A) rs80358579(G;G)
Alt	rs80358579(A;A) rs80358579(G;G)
Reference	Rs80358579(C;C)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary cancer-predisposing syndrome Familial cancer of breast not provided
Variation	info
Gene	BRCA2
CLNDBN	Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome Familial cancer of breast not provided
Reversed	0
HGVS	NC_000013.10:g.32911854C>A; NC_000013.10:g.32911854C>G
CLNSRC	Ambry Genetics ClinVar
CLNACC	RCV000113165.2, RCV000131099.2, RCV000044181.2, RCV000077302.5, RCV000131100.2, RCV000219700.2,