rs80357510

minus

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

Make rs80357510(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43092501

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357510
dbSNP (classic)	rs80357510
ClinGen	rs80357510
ebi	rs80357510
HLI	rs80357510
Exac	rs80357510
Gnomad	rs80357510
Varsome	rs80357510
LitVar	rs80357510
Map	rs80357510
PheGenI	rs80357510
Biobank	rs80357510
1000 genomes	rs80357510
hgdp	rs80357510
ensembl	rs80357510
geneview	rs80357510
scholar	rs80357510
google	rs80357510
pharmgkb	rs80357510
gwascentral	rs80357510
openSNP	rs80357510
23andMe	rs80357510
SNPshot	rs80357510
SNPdbe	rs80357510
MSV3d	rs80357510
GWAS Ctlg	rs80357510

Max Magnitude

6

rs80357510, also known as 3148delCT, c.3029_3030delCT and p.Pro1010Argfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357510(-;-)
Alt	rs80357510(-;-)
Reference	Rs80357510(CT;CT)
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.41244518_41244519delAG
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048053.5, RCV000077536.6, RCV000131906.3, RCV000235127.2,