rs80357999

minus

Geno	Mag	Summary
(-;TG)	6	BRCA1 variant considered pathogenic for breast cancer
(TG;TG)	0	common in clinvar

Make rs80357999(-;-)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43093129

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357999
dbSNP (classic)	rs80357999
ClinGen	rs80357999
ebi	rs80357999
HLI	rs80357999
Exac	rs80357999
Gnomad	rs80357999
Varsome	rs80357999
LitVar	rs80357999
Map	rs80357999
PheGenI	rs80357999
Biobank	rs80357999
1000 genomes	rs80357999
hgdp	rs80357999
ensembl	rs80357999
geneview	rs80357999
scholar	rs80357999
google	rs80357999
pharmgkb	rs80357999
gwascentral	rs80357999
openSNP	rs80357999
23andMe	rs80357999
SNPshot	rs80357999
SNPdbe	rs80357999
MSV3d	rs80357999
GWAS Ctlg	rs80357999

Status

Merged into rs80357706

Max Magnitude

6

rs80357999, also known as 2520delTG, c.2401_2402delTG and p.Cys801=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk
Alt
Reference	Rs80357999(TG;TG)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000017.10:g.41245142_41245143delCA
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000047826.3, RCV000111844.2, RCV000162857.1,