rs80357583

minus

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

Make rs80357583(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43093262

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357583
dbSNP (classic)	rs80357583
ClinGen	rs80357583
ebi	rs80357583
HLI	rs80357583
Exac	rs80357583
Gnomad	rs80357583
Varsome	rs80357583
LitVar	rs80357583
Map	rs80357583
PheGenI	rs80357583
Biobank	rs80357583
1000 genomes	rs80357583
hgdp	rs80357583
ensembl	rs80357583
geneview	rs80357583
scholar	rs80357583
google	rs80357583
pharmgkb	rs80357583
gwascentral	rs80357583
openSNP	rs80357583
23andMe	rs80357583
SNPshot	rs80357583
SNPdbe	rs80357583
MSV3d	rs80357583
GWAS Ctlg	rs80357583

Max Magnitude

6

rs80357583, also known as 2388delG, c.2269_2269delG and p.Val757Phefs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357583(-;-)
Alt	rs80357583(-;-)
Reference	Rs80357583(G;G)
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.41245279delC
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000031040.6, RCV000047779.2, RCV000215693.1, RCV000486157.1,