rs80357653

minus

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

Make rs80357653(-;-)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43070980

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357653
dbSNP (classic)	rs80357653
ClinGen	rs80357653
ebi	rs80357653
HLI	rs80357653
Exac	rs80357653
Gnomad	rs80357653
Varsome	rs80357653
LitVar	rs80357653
Map	rs80357653
PheGenI	rs80357653
Biobank	rs80357653
1000 genomes	rs80357653
hgdp	rs80357653
ensembl	rs80357653
geneview	rs80357653
scholar	rs80357653
google	rs80357653
pharmgkb	rs80357653
gwascentral	rs80357653
openSNP	rs80357653
23andMe	rs80357653
SNPshot	rs80357653
SNPdbe	rs80357653
MSV3d	rs80357653
GWAS Ctlg	rs80357653

Merged from

Rs80357705

Max Magnitude

6

rs80357653, also known as 5053delG, c.4934_4934delG and p.Arg1645=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357653(-;-)
Alt	rs80357653(-;-)
Reference	Rs80357653(G;G)
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.41222995delC
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048699.3, RCV000112428.3, RCV000130668.3, RCV000236929.2,