rs80357787

minus

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

Make rs80357787(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43091008

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357787
dbSNP (classic)	rs80357787
ClinGen	rs80357787
ebi	rs80357787
HLI	rs80357787
Exac	rs80357787
Gnomad	rs80357787
Varsome	rs80357787
LitVar	rs80357787
Map	rs80357787
PheGenI	rs80357787
Biobank	rs80357787
1000 genomes	rs80357787
hgdp	rs80357787
ensembl	rs80357787
geneview	rs80357787
scholar	rs80357787
google	rs80357787
pharmgkb	rs80357787
gwascentral	rs80357787
openSNP	rs80357787
23andMe	rs80357787
SNPshot	rs80357787
SNPdbe	rs80357787
MSV3d	rs80357787
GWAS Ctlg	rs80357787

Max Magnitude

6

rs80357787, also known as 4239delAG, c.4120_4121delAG and p.Ser1374Terfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357787(-;-)
Alt	rs80357787(-;-)
Reference	Rs80357787(AG;AG)
Significance	Pathogenic
Disease	Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Familial cancer of breast Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000017.10:g.41243025_41243026delCT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000031151.6, RCV000048450.2, RCV000131891.3,