rs80358670

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 rs80358670(A;A)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32338680

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358670
dbSNP (classic)	rs80358670
ClinGen	rs80358670
ebi	rs80358670
HLI	rs80358670
Exac	rs80358670
Gnomad	rs80358670
Varsome	rs80358670
LitVar	rs80358670
Map	rs80358670
PheGenI	rs80358670
Biobank	rs80358670
1000 genomes	rs80358670
hgdp	rs80358670
ensembl	rs80358670
geneview	rs80358670
scholar	rs80358670
google	rs80358670
pharmgkb	rs80358670
gwascentral	rs80358670
openSNP	rs80358670
23andMe	rs80358670
SNPshot	rs80358670
SNPdbe	rs80358670
MSV3d	rs80358670
GWAS Ctlg	rs80358670

Max Magnitude

6

rs80358670, also known as S1442X, c.4325C>A and p.Ser1442Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358670(A;A) rs80358670(G;G)
Alt	rs80358670(A;A) rs80358670(G;G)
Reference	Rs80358670(C;C)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer not provided
Variation	info
Gene	BRCA2
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 not provided
Reversed	0
HGVS	NC_000013.10:g.32912817C>A; NC_000013.10:g.32912817C>G
CLNSRC	ClinVar
CLNACC	RCV000044395.3, RCV000113295.3, RCV000077728.3, RCV000160186.1,