rs80357669

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(-;C)	6	BRCA1 variant considered pathogenic for breast cancer
(C;C)	0	Normal

Make rs80357669(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43093074

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357669
dbSNP (classic)	rs80357669
ClinGen	rs80357669
ebi	rs80357669
HLI	rs80357669
Exac	rs80357669
Gnomad	rs80357669
Varsome	rs80357669
LitVar	rs80357669
Map	rs80357669
PheGenI	rs80357669
Biobank	rs80357669
1000 genomes	rs80357669
hgdp	rs80357669
ensembl	rs80357669
geneview	rs80357669
scholar	rs80357669
google	rs80357669
pharmgkb	rs80357669
gwascentral	rs80357669
openSNP	rs80357669
23andMe	rs80357669
SNPshot	rs80357669
SNPdbe	rs80357669
MSV3d	rs80357669
GWAS Ctlg	rs80357669

Max Magnitude

6

rs80357669, also known as 2457delC or p.Asp821Ilefs, is a deletion variant in the BRCA1 gene. It is considered a pathogenic mutation.[PMID 23269703]

ClinVar
Risk	rs80357669(-;-)
Alt	rs80357669(-;-)
Reference	Rs80357669(C;C)
Significance	Pathogenic
Disease	Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed	1
HGVS	NC_000017.10:g.41245091delG
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000031052.11, RCV000047845.5, RCV000131356.3, RCV000167767.5,