rs80357945

minus

Geno	Mag	Summary
(-;GT)	6	BRCA1 variant considered pathogenic for breast cancer
(GT;GT)	0	Normal

Make rs80357945(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43092172

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357945
dbSNP (classic)	rs80357945
ClinGen	rs80357945
ebi	rs80357945
HLI	rs80357945
Exac	rs80357945
Gnomad	rs80357945
Varsome	rs80357945
LitVar	rs80357945
Map	rs80357945
PheGenI	rs80357945
Biobank	rs80357945
1000 genomes	rs80357945
hgdp	rs80357945
ensembl	rs80357945
geneview	rs80357945
scholar	rs80357945
google	rs80357945
pharmgkb	rs80357945
gwascentral	rs80357945
openSNP	rs80357945
23andMe	rs80357945
SNPshot	rs80357945
SNPdbe	rs80357945
MSV3d	rs80357945
GWAS Ctlg	rs80357945

Max Magnitude

6

rs80357945, also known as 3477delGT, c.3358_3359delGT and p.Val1120Terfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357945(-;-)
Alt	rs80357945(-;-)
Reference	Rs80357945(GT;GT)
Significance	Pathogenic
Disease	Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Familial cancer of breast Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000017.10:g.41244189_41244190delAC
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000031107.7, RCV000048163.2, RCV000218890.1,