rs80359511

plus

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

Make rs80359511(AT;AT)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32326521

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359511
dbSNP (classic)	rs80359511
ClinGen	rs80359511
ebi	rs80359511
HLI	rs80359511
Exac	rs80359511
Gnomad	rs80359511
Varsome	rs80359511
LitVar	rs80359511
Map	rs80359511
PheGenI	rs80359511
Biobank	rs80359511
1000 genomes	rs80359511
hgdp	rs80359511
ensembl	rs80359511
geneview	rs80359511
scholar	rs80359511
google	rs80359511
pharmgkb	rs80359511
gwascentral	rs80359511
openSNP	rs80359511
23andMe	rs80359511
SNPshot	rs80359511
SNPdbe	rs80359511
MSV3d	rs80359511
GWAS Ctlg	rs80359511

Max Magnitude

6

rs80359511, also known as 767insAT, c.539_540insAT and p.Ile180?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359511(AT;AT)
Alt	rs80359511(AT;AT)
Reference	Rs80359511(-;-)
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.32900657_32900658dupAT
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000044648.2, RCV000143833.3,