rs80359547

plus

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

Make rs80359547(-;-)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32340259

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359547
dbSNP (classic)	rs80359547
ClinGen	rs80359547
ebi	rs80359547
HLI	rs80359547
Exac	rs80359547
Gnomad	rs80359547
Varsome	rs80359547
LitVar	rs80359547
Map	rs80359547
PheGenI	rs80359547
Biobank	rs80359547
1000 genomes	rs80359547
hgdp	rs80359547
ensembl	rs80359547
geneview	rs80359547
scholar	rs80359547
google	rs80359547
pharmgkb	rs80359547
gwascentral	rs80359547
openSNP	rs80359547
23andMe	rs80359547
SNPshot	rs80359547
SNPdbe	rs80359547
MSV3d	rs80359547
GWAS Ctlg	rs80359547

Max Magnitude

6

rs80359547, also known as 6132del4, c.5904_5907delAGTC and p.Ser1968_Val1969?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359547(-;-)
Alt	rs80359547(-;-)
Reference	Rs80359547(AGTC;AGTC)
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.32914396_32914399delAGTC
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000044790.2, RCV000113502.3,