Variants
TP53 variants
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.
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| A138P | c.412G>C | Exon 5 | 7,675,200 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A138V | c.413C>T | Exon 5 | 7,675,199 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A161_Y163delinsD | c.482_487del | Exon 5 | 7,675,124 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A347D | c.1040C>A | Exon 10 | 7,670,669 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| 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 | |
| C124X | c.372C>A | Exon 4 | 7,675,997 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C135G | c.403T>G | Exon 5 | 7,675,209 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C277G | c.829T>G | Exon 8 | 7,673,791 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E180K | c.538G>A | Exon 5 | 7,675,074 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E286V | c.857A>T | Exon 8 | 7,673,763 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E298X | c.892G>T | Exon 8 | 7,673,728 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| F113I | c.337T>A | Exon 4 | 7,676,032 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| F113V | c.337T>G | Exon 4 | 7,676,032 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G105D | c.314G>A | Exon 4 | 7,676,055 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G108_L111delinsIQ | c.322_332delinsATTCA | Exon 4 | 7,676,037 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G245S | c.733G>A | Exon 7 | 7,674,230 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G279E | c.836G>A | Exon 8 | 7,673,784 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| H178D | c.532C>G | Exon 5 | 7,675,080 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| H179Q | c.537T>A | Exon 5 | 7,675,075 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| H193P | c.578A>C | Exon 6 | 7,674,953 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| H214L | c.641A>T | Exon 6 | 7,674,890 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| H214R | c.641A>G | Exon 6 | 7,674,890 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| I254N | c.761T>A | Exon 7 | 7,674,202 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| I254T | c.761T>C | Exon 7 | 7,674,202 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K132N | c.396G>C | Exon 5 | 7,675,216 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K164E | c.490A>G | Exon 5 | 7,675,122 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K382Nfs*40 | c.1146del | Exon 11 | 7,669,644 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L111P | c.332T>C | Exon 4 | 7,676,037 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L111Q | c.332T>A | Exon 4 | 7,676,037 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L111R | c.332T>G | Exon 4 | 7,676,037 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L194R | c.581T>G | Exon 6 | 7,674,950 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L252_I254del | c.754_762del | Exon 7 | 7,674,200 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L344P | c.1031T>C | Exon 10 | 7,670,678 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L344R | c.1031T>G | Exon 10 | 7,670,678 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| P152L | c.455C>T | Exon 5 | 7,675,157 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| P190L | c.569C>T | Exon 6 | 7,674,962 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| P278H | c.833C>A | Exon 8 | 7,673,787 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R110G | c.328C>G | Exon 4 | 7,676,041 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R110L | c.329G>T | Exon 4 | 7,676,040 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R110P | c.329G>C | Exon 4 | 7,676,040 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R158L | c.473G>T | Exon 5 | 7,675,139 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R158P | c.473G>C | Exon 5 | 7,675,139 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R175G | c.523C>G | Exon 5 | 7,675,089 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R175H | c.524G>A | Exon 5 | 7,675,088 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R175L | c.524G>T | Exon 5 | 7,675,088 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R181C | c.541C>T | Exon 5 | 7,675,071 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R248L | c.743G>T | Exon 7 | 7,674,220 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R248Q | c.743G>A | Exon 7 | 7,674,220 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R248W | c.742C>T | Exon 7 | 7,674,221 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R273H | c.818G>A | Exon 8 | 7,673,802 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R280S | c.840A>T | Exon 8 | 7,673,780 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R283P | c.848G>C | Exon 8 | 7,673,772 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R337C | c.1009C>T | Exon 10 | 7,670,700 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R337G | c.1009C>G | Exon 10 | 7,670,700 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R337L | c.1010G>T | Exon 10 | 7,670,699 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R337P | c.1010G>C | Exon 10 | 7,670,699 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R337S | c.1009C>A | Exon 10 | 7,670,700 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R342P | c.1025G>C | Exon 10 | 7,670,684 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| S106R | c.318C>G | Exon 4 | 7,676,051 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| S127C | c.380C>G | Exon 5 | 7,675,232 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| S127P | c.379T>C | Exon 5 | 7,675,233 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| S127T | c.379T>A | Exon 5 | 7,675,233 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| S127Y | c.380C>A | Exon 5 | 7,675,232 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| V143A | c.428T>C | Exon 5 | 7,675,184 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| V173M | c.517G>A | Exon 5 | 7,675,095 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| V197M | c.589G>A | Exon 6 | 7,674,942 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| X394Lext*76 | c.1179dup | Exon 11 | 7,669,611 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y163C | c.488A>G | Exon 5 | 7,675,124 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y163H | c.487T>C | Exon 5 | 7,675,125 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y220C | c.659A>G | Exon 6 | 7,674,872 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A159V | c.476C>T | Exon 5 | 7,675,136 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| 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.711G>C | Exon 7 | 7,674,252 | Pathogenic/likely 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 | |
| C176F | c.527G>T | Exon 5 | 7,675,085 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C176Y | c.527G>A | Exon 5 | 7,675,085 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C238F | c.713G>T | Exon 7 | 7,674,250 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C238Y | c.713G>A | Exon 7 | 7,674,250 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C275Y | c.824G>A | Exon 8 | 7,673,796 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C277Y | c.830G>A | Exon 8 | 7,673,790 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D228X | c.681dup | Exon 7 | 7,674,281 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D259V | c.776A>T | Exon 7 | 7,674,187 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D281G | c.842A>G | Exon 8 | 7,673,778 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D281N | c.841G>A | Exon 8 | 7,673,779 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |