rs80359613

plus

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

Make rs80359613(C;C)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32340996

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359613
dbSNP (classic)	rs80359613
ClinGen	rs80359613
ebi	rs80359613
HLI	rs80359613
Exac	rs80359613
Gnomad	rs80359613
Varsome	rs80359613
LitVar	rs80359613
Map	rs80359613
PheGenI	rs80359613
Biobank	rs80359613
1000 genomes	rs80359613
hgdp	rs80359613
ensembl	rs80359613
geneview	rs80359613
scholar	rs80359613
google	rs80359613
pharmgkb	rs80359613
gwascentral	rs80359613
openSNP	rs80359613
23andMe	rs80359613
SNPshot	rs80359613
SNPdbe	rs80359613
MSV3d	rs80359613
GWAS Ctlg	rs80359613

Max Magnitude

6

rs80359613, also known as 6869insC, c.6641_6642insC and p.Thr2214?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359613(C;C)
Alt	rs80359613(C;C)
Reference	Rs80359613(-;-)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA2
CLNDBN	Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000013.10:g.32915133dupC
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000031641.8, RCV000045004.3, RCV000130476.3,