rs80357892

minus

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

Make rs80357892(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43092165

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357892
dbSNP (classic)	rs80357892
ClinGen	rs80357892
ebi	rs80357892
HLI	rs80357892
Exac	rs80357892
Gnomad	rs80357892
Varsome	rs80357892
LitVar	rs80357892
Map	rs80357892
PheGenI	rs80357892
Biobank	rs80357892
1000 genomes	rs80357892
hgdp	rs80357892
ensembl	rs80357892
geneview	rs80357892
scholar	rs80357892
google	rs80357892
pharmgkb	rs80357892
gwascentral	rs80357892
openSNP	rs80357892
23andMe	rs80357892
SNPshot	rs80357892
SNPdbe	rs80357892
MSV3d	rs80357892
GWAS Ctlg	rs80357892

Max Magnitude

6

rs80357892, also known as 3484delCA, c.3365_3366delCA and p.Thr1122Argfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357892(-;-)
Alt	rs80357892(-;-)
Reference	Rs80357892(CA;CA)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000017.10:g.41244182_41244183delTG
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048168.2, RCV000112081.3, RCV000162863.1,