rs80357925

minus

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

Make rs80357925(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43057070

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357925
dbSNP (classic)	rs80357925
ClinGen	rs80357925
ebi	rs80357925
HLI	rs80357925
Exac	rs80357925
Gnomad	rs80357925
Varsome	rs80357925
LitVar	rs80357925
Map	rs80357925
PheGenI	rs80357925
Biobank	rs80357925
1000 genomes	rs80357925
hgdp	rs80357925
ensembl	rs80357925
geneview	rs80357925
scholar	rs80357925
google	rs80357925
pharmgkb	rs80357925
gwascentral	rs80357925
openSNP	rs80357925
23andMe	rs80357925
SNPshot	rs80357925
SNPdbe	rs80357925
MSV3d	rs80357925
GWAS Ctlg	rs80357925

Max Magnitude

6

rs80357925, also known as 5378delA, c.5259_5259delA and p.Arg1753=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357925(-;-)
Alt	rs80357925(-;-)
Reference	Rs80357925(A;A)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome
Reversed	1
HGVS	NC_000017.10:g.41209087delT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000031232.6, RCV000123283.1,