rs80359427

plus

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

Make rs80359427(-;-)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32325169

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359427
dbSNP (classic)	rs80359427
ClinGen	rs80359427
ebi	rs80359427
HLI	rs80359427
Exac	rs80359427
Gnomad	rs80359427
Varsome	rs80359427
LitVar	rs80359427
Map	rs80359427
PheGenI	rs80359427
Biobank	rs80359427
1000 genomes	rs80359427
hgdp	rs80359427
ensembl	rs80359427
geneview	rs80359427
scholar	rs80359427
google	rs80359427
pharmgkb	rs80359427
gwascentral	rs80359427
openSNP	rs80359427
23andMe	rs80359427
SNPshot	rs80359427
SNPdbe	rs80359427
MSV3d	rs80359427
GWAS Ctlg	rs80359427

Max Magnitude

6

rs80359427, also known as 638delC, c.410_410delC and p.Ser137Phefs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359427(-;-)
Alt	rs80359427(-;-)
Reference	Rs80359427(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.32899306delC
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000044352.2, RCV000113539.2,