rs80357732

minus

Geno	Mag	Summary
(-;A)	6	BRCA1 variant considered pathogenic for breast cancer
(A;A)	0	common in clinvar

Make rs80357732(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43057055

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357732
dbSNP (classic)	rs80357732
ClinGen	rs80357732
ebi	rs80357732
HLI	rs80357732
Exac	rs80357732
Gnomad	rs80357732
Varsome	rs80357732
LitVar	rs80357732
Map	rs80357732
PheGenI	rs80357732
Biobank	rs80357732
1000 genomes	rs80357732
hgdp	rs80357732
ensembl	rs80357732
geneview	rs80357732
scholar	rs80357732
google	rs80357732
pharmgkb	rs80357732
gwascentral	rs80357732
openSNP	rs80357732
23andMe	rs80357732
SNPshot	rs80357732
SNPdbe	rs80357732
MSV3d	rs80357732
GWAS Ctlg	rs80357732

Merged from

Rs886038044

Max Magnitude

6

rs80357732, also known as c.5276delA, 5393delA, c.5274_5274delA and p.Arg1758=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357732(-;-)
Alt	rs80357732(-;-)
Reference	Rs80357732(A;A)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer not provided
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1 not provided
Reversed	1
HGVS	NC_000017.10:g.41209070delT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048895.2, RCV000241091.2, RCV000486029.1,