Variants
TP53 variants
Predicted effect: Splice site or region. 19 of the 162 TP53 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
| Variant | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|
| c.-29+1G>T | Intron 1 | 7,687,376 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.97-1G>A | Intron 3 | 7,676,273 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.375+5G>A | Intron 4 | 7,675,989 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.919+1G>A | Intron 8 | 7,673,700 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.993+1del | Intron 9 | 7,673,533 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.97-11C>G | Intron 3 | 7,676,283 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.375G>A | Exon 4 | 7,675,994 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.376-2A>T | Intron 4 | 7,675,238 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.559+1G>A | Intron 5 | 7,675,052 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.560-2A>C | Intron 5 | 7,674,973 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.672+1G>T | Intron 6 | 7,674,858 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.672+2T>G | Intron 6 | 7,674,857 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.672G>A | Exon 6 | 7,674,859 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.782+1G>T | Intron 7 | 7,674,180 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.783-1G>A | Intron 7 | 7,673,838 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.919_919+1insCTGCCCCCAGGGAGCACTAAGCGAG | Intron 8 | 7,673,700 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.993+1G>A | Intron 9 | 7,673,534 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.993G>A | Exon 9 | 7,673,535 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.994-2A>G | Intron 9 | 7,670,717 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |