rs80357903

minus

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

Make rs80357903(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43092197

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357903
dbSNP (classic)	rs80357903
ClinGen	rs80357903
ebi	rs80357903
HLI	rs80357903
Exac	rs80357903
Gnomad	rs80357903
Varsome	rs80357903
LitVar	rs80357903
Map	rs80357903
PheGenI	rs80357903
Biobank	rs80357903
1000 genomes	rs80357903
hgdp	rs80357903
ensembl	rs80357903
geneview	rs80357903
scholar	rs80357903
google	rs80357903
pharmgkb	rs80357903
gwascentral	rs80357903
openSNP	rs80357903
23andMe	rs80357903
SNPshot	rs80357903
SNPdbe	rs80357903
MSV3d	rs80357903
GWAS Ctlg	rs80357903

Status

Merged into rs80357701

Max Magnitude

6

rs80357903, also known as 3450del4, c.3331_3334delCAAG and p.Gln1111_Glu1112?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk
Alt
Reference	Rs80357903(CAAG;CAAG)
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.41244214_41244217delCTTG
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000031104.10, RCV000048151.5, RCV000131812.3, RCV000195363.2,