rs80358062
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common/normal |
| (G;T) | 6 | Likely/Pathogenic for breast cancer |
| Make rs80358062(T;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 17 |
| Position | 43047635 |
| Gene | BRCA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80358062 |
| dbSNP (classic) | rs80358062 |
| ClinGen | rs80358062 |
| ebi | rs80358062 |
| HLI | rs80358062 |
| Exac | rs80358062 |
| Gnomad | rs80358062 |
| Varsome | rs80358062 |
| LitVar | rs80358062 |
| Map | rs80358062 |
| PheGenI | rs80358062 |
| Biobank | rs80358062 |
| 1000 genomes | rs80358062 |
| hgdp | rs80358062 |
| ensembl | rs80358062 |
| geneview | rs80358062 |
| scholar | rs80358062 |
| rs80358062 | |
| pharmgkb | rs80358062 |
| gwascentral | rs80358062 |
| openSNP | rs80358062 |
| 23andMe | rs80358062 |
| SNPshot | rs80358062 |
| SNPdbe | rs80358062 |
| MSV3d | rs80358062 |
| GWAS Ctlg | rs80358062 |
| Max Magnitude | 6 |
rs80358062, also known as c.5467+8G>T or c.5467+8G>A, represents an intronic variant in the BRCA1 gene.
The c.5467+8G>T variant is reported as pathogenic for breast cancer by one submitter in ClinVar; the c.5467+8G>A variant is reported as likely to be benign by one submitter and as of uncertain significance by two other submitters.
23andMe name for the c.5467+8G>T variant: i5009490
| ClinVar | |
|---|---|
| Risk | rs80358062(A;A) rs80358062(T;T) |
| Alt | rs80358062(A;A) rs80358062(T;T) |
| Reference | Rs80358062(G;G) |
| Significance | Other |
| Disease | Familial cancer of breast Breast-ovarian cancer not specified |
| Variation | info |
| Gene | BRCA1 |
| CLNDBN | Familial cancer of breast Breast-ovarian cancer, familial 1 not specified |
| Reversed | 1 |
| HGVS | NC_000017.10:g.41199652C>A; NC_000017.10:g.41199652C>T |
| CLNSRC | Breast Cancer Information Core (BRCA1) |
| CLNACC | RCV000049005.2, RCV000077168.5, RCV000160009.1, |
