rs80357872

minus

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

Make rs80357872(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43099808

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357872
dbSNP (classic)	rs80357872
ClinGen	rs80357872
ebi	rs80357872
HLI	rs80357872
Exac	rs80357872
Gnomad	rs80357872
Varsome	rs80357872
LitVar	rs80357872
Map	rs80357872
PheGenI	rs80357872
Biobank	rs80357872
1000 genomes	rs80357872
hgdp	rs80357872
ensembl	rs80357872
geneview	rs80357872
scholar	rs80357872
google	rs80357872
pharmgkb	rs80357872
gwascentral	rs80357872
openSNP	rs80357872
23andMe	rs80357872
SNPshot	rs80357872
SNPdbe	rs80357872
MSV3d	rs80357872
GWAS Ctlg	rs80357872

Max Magnitude

6

rs80357872, also known as 633delC, c.514_514delC and p.Gln172Asnfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357872(-;-)
Alt	rs80357872(-;-)
Reference	Rs80357872(C;C)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	BRCA1
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not provided
Reversed	1
HGVS	NC_000017.10:g.41251825delG
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048817.6, RCV000083216.5, RCV000130785.3, RCV000212158.2,