rs80359422

plus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(-;C)	6	BRCA2 variant considered pathogenic for breast cancer

Make rs80359422(C;C)

Reference

GRCh38 38.1/142

Chromosome

13

Position

32338403

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359422
dbSNP (classic)	rs80359422
ClinGen	rs80359422
ebi	rs80359422
HLI	rs80359422
Exac	rs80359422
Gnomad	rs80359422
Varsome	rs80359422
LitVar	rs80359422
Map	rs80359422
PheGenI	rs80359422
Biobank	rs80359422
1000 genomes	rs80359422
hgdp	rs80359422
ensembl	rs80359422
geneview	rs80359422
scholar	rs80359422
google	rs80359422
pharmgkb	rs80359422
gwascentral	rs80359422
openSNP	rs80359422
23andMe	rs80359422
SNPshot	rs80359422
SNPdbe	rs80359422
MSV3d	rs80359422
GWAS Ctlg	rs80359422

Max Magnitude

6

rs80359422, also known as 4276insC, c.4048_4049insC and p.His1350?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359422(C;C)
Alt	rs80359422(C;C)
Reference	Rs80359422(-;-)
Significance	Pathogenic
Disease	Breast-ovarian cancer
Variation	info
Gene	BRCA2
CLNDBN	Breast-ovarian cancer, familial 2
Reversed	0
HGVS	NC_000013.10:g.32912540dupC
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000113267.2,