rs80359389

Orientation

plus

Stabilized

plus

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

Make rs80359389(-;-)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32337909

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359389
dbSNP (old)	rs80359389
ClinGen	rs80359389
ebi	rs80359389
HLI	rs80359389
Exac	rs80359389
Gnomad	rs80359389
Varsome	rs80359389
Map	rs80359389
PheGenI	rs80359389
Biobank	rs80359389
1000 genomes	rs80359389
hgdp	rs80359389
ensembl	rs80359389
gopubmed	rs80359389
geneview	rs80359389
scholar	rs80359389
google	rs80359389
pharmgkb	rs80359389
gwascentral	rs80359389
openSNP	rs80359389
23andMe	rs80359389
23andMe all	rs80359389
SNP Nexus
SNPshot	rs80359389
SNPdbe	rs80359389
MSV3d	rs80359389
GWAS Ctlg	rs80359389

Max Magnitude

6

rs80359389, also known as 3782delCA, c.3554_3555delCA and p.Thr1185Serfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359389(-;-)
Alt	rs80359389(-;-)
Reference	Rs80359389(AC;AC)
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.32912046_32912047delCA
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000044220.2, RCV000113190.3,