rs80357980

minus

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

Make rs80357980(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43091919

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357980
dbSNP (classic)	rs80357980
ClinGen	rs80357980
ebi	rs80357980
HLI	rs80357980
Exac	rs80357980
Gnomad	rs80357980
Varsome	rs80357980
LitVar	rs80357980
Map	rs80357980
PheGenI	rs80357980
Biobank	rs80357980
1000 genomes	rs80357980
hgdp	rs80357980
ensembl	rs80357980
geneview	rs80357980
scholar	rs80357980
google	rs80357980
pharmgkb	rs80357980
gwascentral	rs80357980
openSNP	rs80357980
23andMe	rs80357980
SNPshot	rs80357980
SNPdbe	rs80357980
MSV3d	rs80357980
GWAS Ctlg	rs80357980

Max Magnitude

6

rs80357980, also known as 3731delA, c.3612_3612delA and p.Arg1204=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357980(-;-)
Alt	rs80357980(-;-)
Reference	Rs80357980(A;A)
Significance	Pathogenic
Disease	Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Reversed	1
HGVS	NC_000017.10:g.41243936delT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000031114.6, RCV000048253.2, RCV000219713.1, RCV000255282.1,