rs80359416

plus

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

Make rs80359416(-;-)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32338274

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359416
ClinGen	rs80359416
ebi	rs80359416
HLI	rs80359416
Exac	rs80359416
Varsome	rs80359416
Map	rs80359416
PheGenI	rs80359416
hapmap	rs80359416
1000 genomes	rs80359416
hgdp	rs80359416
ensembl	rs80359416
gopubmed	rs80359416
geneview	rs80359416
scholar	rs80359416
google	rs80359416
pharmgkb	rs80359416
gwascentral	rs80359416
openSNP	rs80359416
23andMe	rs80359416
23andMe all	rs80359416
SNP Nexus
SNPshot	rs80359416
SNPdbe	rs80359416
MSV3d	rs80359416
GWAS Ctlg	rs80359416

Max Magnitude

6

rs80359416, also known as 4147delG, c.3919_3919delG and p.Glu1307Lysfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk
Alt
Reference	Rs80359416(G;G)
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.32912411delG
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000044311.2, RCV000113243.3,