rs80357706

minus

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

Make rs80357706(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43093125

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357706
dbSNP (classic)	rs80357706
ClinGen	rs80357706
ebi	rs80357706
HLI	rs80357706
Exac	rs80357706
Gnomad	rs80357706
Varsome	rs80357706
LitVar	rs80357706
Map	rs80357706
PheGenI	rs80357706
Biobank	rs80357706
1000 genomes	rs80357706
hgdp	rs80357706
ensembl	rs80357706
geneview	rs80357706
scholar	rs80357706
google	rs80357706
pharmgkb	rs80357706
gwascentral	rs80357706
openSNP	rs80357706
23andMe	rs80357706
SNPshot	rs80357706
SNPdbe	rs80357706
MSV3d	rs80357706
GWAS Ctlg	rs80357706

Merged from

Rs80357999

Max Magnitude

6

rs80357706, also known as 2524delTG, c.2405_2406delTG and p.Val802Glufs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357706(-;-)
Alt	rs80357706(-;-)
Reference	Rs80357706(TG;TG)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome Neoplasm of breast
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome Neoplasm of breast
Reversed	1
HGVS	NC_000017.10:g.41245142_41245143delCA
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000047826.3, RCV000111844.3, RCV000162857.1, RCV000412819.1,