rs80359391

plus

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

Make rs80359391(-;-)

Reference

GRCh38 38.1/142

Chromosome

13

Position

32337953

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359391
dbSNP (classic)	rs80359391
ClinGen	rs80359391
ebi	rs80359391
HLI	rs80359391
Exac	rs80359391
Gnomad	rs80359391
Varsome	rs80359391
LitVar	rs80359391
Map	rs80359391
PheGenI	rs80359391
Biobank	rs80359391
1000 genomes	rs80359391
hgdp	rs80359391
ensembl	rs80359391
geneview	rs80359391
scholar	rs80359391
google	rs80359391
pharmgkb	rs80359391
gwascentral	rs80359391
openSNP	rs80359391
23andMe	rs80359391
SNPshot	rs80359391
SNPdbe	rs80359391
MSV3d	rs80359391
GWAS Ctlg	rs80359391

Merged from

Rs80359392

Max Magnitude

6

rs80359391, also known as c.3599_3600delTG, 3826delTG, c.3598_3599delTG and p.Cys1200Terfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359391(-;-) rs80359391(GT;GT)
Alt	rs80359391(-;-) rs80359391(GT;GT)
Reference	Rs80359391(TG;TG)
Significance	Pathogenic
Disease	not provided Breast-ovarian cancer Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation	info
Gene	BRCA2
CLNDBN	not provided Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed	0
HGVS	NC_000013.10:g.32912091_32912092delGT
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000044230.5, RCV000113196.5, RCV000162919.1, RCV000195400.2,