rs80357887

minus

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

Make rs80357887(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43099851

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357887
dbSNP (classic)	rs80357887
ClinGen	rs80357887
ebi	rs80357887
HLI	rs80357887
Exac	rs80357887
Gnomad	rs80357887
Varsome	rs80357887
LitVar	rs80357887
Map	rs80357887
PheGenI	rs80357887
Biobank	rs80357887
1000 genomes	rs80357887
hgdp	rs80357887
ensembl	rs80357887
geneview	rs80357887
scholar	rs80357887
google	rs80357887
pharmgkb	rs80357887
gwascentral	rs80357887
openSNP	rs80357887
23andMe	rs80357887
SNPshot	rs80357887
SNPdbe	rs80357887
MSV3d	rs80357887
GWAS Ctlg	rs80357887

Max Magnitude

6

rs80357887, also known as c.466_467delCT, 589delCT, c.470_471delCT and p.Ser157Terfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357887(-;-)
Alt	rs80357887(-;-)
Reference	Rs80357887(CT;CT)
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.41251868_41251869delAG
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000031189.6, RCV000048637.5, RCV000131836.3, RCV000203622.1,