rs80357740

minus

Geno	Mag	Summary
(-;C)	6	Likely miscall in Ancestry data; otherwise, BRCA1 variant considered pathogenic for breast cancer
(C;C)	0	common in clinvar

Make rs80357740(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43093054

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357740
dbSNP (classic)	rs80357740
ClinGen	rs80357740
ebi	rs80357740
HLI	rs80357740
Exac	rs80357740
Gnomad	rs80357740
Varsome	rs80357740
LitVar	rs80357740
Map	rs80357740
PheGenI	rs80357740
Biobank	rs80357740
1000 genomes	rs80357740
hgdp	rs80357740
ensembl	rs80357740
geneview	rs80357740
scholar	rs80357740
google	rs80357740
pharmgkb	rs80357740
gwascentral	rs80357740
openSNP	rs80357740
23andMe	rs80357740
SNPshot	rs80357740
SNPdbe	rs80357740
MSV3d	rs80357740
GWAS Ctlg	rs80357740

Max Magnitude

6

rs80357740, also known as 2596delC, c.2477_2477delC and p.Thr826Lysfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357740(-;-)
Alt	rs80357740(-;-)
Reference	Rs80357740(C;C)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41245071delG
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000047854.2, RCV000111875.2,