rs80359291

plus

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

Make rs80359291(-;-)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32333073

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359291
dbSNP (classic)	rs80359291
ClinGen	rs80359291
ebi	rs80359291
HLI	rs80359291
Exac	rs80359291
Gnomad	rs80359291
Varsome	rs80359291
LitVar	rs80359291
Map	rs80359291
PheGenI	rs80359291
Biobank	rs80359291
1000 genomes	rs80359291
hgdp	rs80359291
ensembl	rs80359291
geneview	rs80359291
scholar	rs80359291
google	rs80359291
pharmgkb	rs80359291
gwascentral	rs80359291
openSNP	rs80359291
23andMe	rs80359291
SNPshot	rs80359291
SNPdbe	rs80359291
MSV3d	rs80359291
GWAS Ctlg	rs80359291

Max Magnitude

6

rs80359291, also known as 1823del5, c.1595_1599delAAACT and p.Glu532_Thr533?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359291(-;-)
Alt	rs80359291(-;-)
Reference	Rs80359291(AAACT;AAACT)
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.32907210_32907214delAAACT
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000043836.2, RCV000112938.3,