rs80357867

minus

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

Make rs80357867(-;-)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43063350

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357867
dbSNP (classic)	rs80357867
ClinGen	rs80357867
ebi	rs80357867
HLI	rs80357867
Exac	rs80357867
Gnomad	rs80357867
Varsome	rs80357867
LitVar	rs80357867
Map	rs80357867
PheGenI	rs80357867
Biobank	rs80357867
1000 genomes	rs80357867
hgdp	rs80357867
ensembl	rs80357867
geneview	rs80357867
scholar	rs80357867
google	rs80357867
pharmgkb	rs80357867
gwascentral	rs80357867
openSNP	rs80357867
23andMe	rs80357867
SNPshot	rs80357867
SNPdbe	rs80357867
MSV3d	rs80357867
GWAS Ctlg	rs80357867

Merged from

Rs80357975

Max Magnitude

6

rs80357867, also known as 5292del4, c.5173_5176delGAAA and p.Glu1725_Arg1726?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357867(-;-)
Alt	rs80357867(-;-)
Reference	Rs80357867(GAAA;GAAA)
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.41215363_41215366delTTTC
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000031225.9, RCV000048843.6, RCV000131829.3, RCV000167855.5,