rs80359702

plus

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

Make rs80359702(-;-)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32363449

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359702
dbSNP (classic)	rs80359702
ClinGen	rs80359702
ebi	rs80359702
HLI	rs80359702
Exac	rs80359702
Gnomad	rs80359702
Varsome	rs80359702
LitVar	rs80359702
Map	rs80359702
PheGenI	rs80359702
Biobank	rs80359702
1000 genomes	rs80359702
hgdp	rs80359702
ensembl	rs80359702
geneview	rs80359702
scholar	rs80359702
google	rs80359702
pharmgkb	rs80359702
gwascentral	rs80359702
openSNP	rs80359702
23andMe	rs80359702
SNPshot	rs80359702
SNPdbe	rs80359702
MSV3d	rs80359702
GWAS Ctlg	rs80359702

Status

Merged into rs80359701

Max Magnitude

6

rs80359702, also known as 8475delGA, c.8247_8248delGA and p.Gln2749_Lys2750GlnAspfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk
Alt
Reference	Rs80359702(AG;AG)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA2
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000013.10:g.32937586_32937587delGA
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000045461.2, RCV000077432.5, RCV000162938.2,