Variants
TP53 variants
Predicted effect: Frameshift. 14 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 | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| K382Nfs*40 | c.1146del | Exon 11 | 7,669,644 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| F109Nfs*38 | c.324_331delinsAAA | Exon 4 | 7,676,038 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| H178Tfs*69 | c.532del | Exon 5 | 7,675,079 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L111Ffs*40 | c.323_329dup | Exon 4 | 7,676,039 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L330Ffs*15 | c.988del | Exon 9 | 7,673,539 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| P27Lfs*17 | c.80del | Exon 3 | 7,676,397 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| P153Afs*28 | c.455dup | Exon 5 | 7,675,156 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R283Pfs*23 | c.847dup | Exon 8 | 7,673,772 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R342Efs*3 | c.1024del | Exon 10 | 7,670,684 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S362Afs*8 | c.1083del | Exon 10 | 7,670,625 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| T18Hfs*26 | c.52del | Exon 2 | 7,676,542 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| T81Nfs*68 | c.241dup | Exon 4 | 7,676,127 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| V122Dfs*26 | c.365_366del | Exon 4 | 7,676,002 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Y103Tfs*20 | c.306del | Exon 4 | 7,676,062 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |