rs80359392

plus

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

Make rs80359392(-;-)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32337954

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359392
dbSNP (classic)	rs80359392
ClinGen	rs80359392
ebi	rs80359392
HLI	rs80359392
Exac	rs80359392
Gnomad	rs80359392
Varsome	rs80359392
LitVar	rs80359392
Map	rs80359392
PheGenI	rs80359392
Biobank	rs80359392
1000 genomes	rs80359392
hgdp	rs80359392
ensembl	rs80359392
geneview	rs80359392
scholar	rs80359392
google	rs80359392
pharmgkb	rs80359392
gwascentral	rs80359392
openSNP	rs80359392
23andMe	rs80359392
SNPshot	rs80359392
SNPdbe	rs80359392
MSV3d	rs80359392
GWAS Ctlg	rs80359392

Status

Merged into rs80359391

Max Magnitude

6

rs80359392, also known as 3827delGT, c.3599_3600delGT and p.Cys1200Terfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk
Alt
Reference	Rs80359392(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, RCV000113196.4, RCV000162919.1, RCV000195400.1,