rs80357977

minus

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

Make rs80357977(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43082509

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357977
dbSNP (classic)	rs80357977
ClinGen	rs80357977
ebi	rs80357977
HLI	rs80357977
Exac	rs80357977
Gnomad	rs80357977
Varsome	rs80357977
LitVar	rs80357977
Map	rs80357977
PheGenI	rs80357977
Biobank	rs80357977
1000 genomes	rs80357977
hgdp	rs80357977
ensembl	rs80357977
geneview	rs80357977
scholar	rs80357977
google	rs80357977
pharmgkb	rs80357977
gwascentral	rs80357977
openSNP	rs80357977
23andMe	rs80357977
SNPshot	rs80357977
SNPdbe	rs80357977
MSV3d	rs80357977
GWAS Ctlg	rs80357977

Max Magnitude

6

rs80357977, also known as 4370delGT, c.4251_4252delGT and p.Val1417_Leu1418ValArgfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357977(-;-)
Alt	rs80357977(-;-)
Reference	Rs80357977(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.41234526_41234527delAC
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000031160.6, RCV000048501.2, RCV000162875.2,