rs80357923

minus

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

Make rs80357923(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43092317

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357923
dbSNP (classic)	rs80357923
ClinGen	rs80357923
ebi	rs80357923
HLI	rs80357923
Exac	rs80357923
Gnomad	rs80357923
Varsome	rs80357923
LitVar	rs80357923
Map	rs80357923
PheGenI	rs80357923
Biobank	rs80357923
1000 genomes	rs80357923
hgdp	rs80357923
ensembl	rs80357923
geneview	rs80357923
scholar	rs80357923
google	rs80357923
pharmgkb	rs80357923
gwascentral	rs80357923
openSNP	rs80357923
23andMe	rs80357923
SNPshot	rs80357923
SNPdbe	rs80357923
MSV3d	rs80357923
GWAS Ctlg	rs80357923

Max Magnitude

6

rs80357923, also known as 3333delC, c.3214_3214delC and p.Leu1072Terfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357923(-;-)
Alt	rs80357923(-;-)
Reference	Rs80357923(C;C)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41244334delG
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048101.3, RCV000112030.3,