Table 1 Functionally relevant TP53 variants found in 9/86 corticotroph tumors
From: TP53 mutations in functional corticotroph tumors are linked to invasion and worse clinical outcome
# | Genomic positiona | Coding sequenceb | Proteinc | Varian type | Exon | Domain | ClinVar ID Interpretation | COSMIC ID FATHMM prediction (score) | % transcriptional activityd |
|---|---|---|---|---|---|---|---|---|---|
1 | g.7675214A > T | c.398 T > A | p.Met133Lys | Missense | 5 | DNA-binding | NA | COSV52821486 Pathogenic (1.00) | 11.33% |
2 | g.7674887C > T | c.644G > A | p.Ser215Asn | Missense | 6 | DNA-binding | 376662 Likely pathogenice | COSV52686793 Pathogenic (0.99) | 12.96% |
3 | g.7674249A > T | c.714 T > A | p.Cys238Stop | Missense | 7 | DNA-binding | NA | COSV52840491 Pathogenic (0.90) | NA |
4 | g.7674245 T > C | c.718A > G | p.Ser240Gly | Missense | 7 | DNA-binding | 584921 Likely pathogenice | COSV52677032 Pathogenic (0.96) | 29.89% |
g.7674190 T > G | c.773A > C | p.Glu258Ala | Missense | 7 | DNA-binding | 458563 VUS | COSV52688395 Pathogenic (0.99) | 0.08% | |
5 | g.7674217C > G | c.746G > C | p.Arg249Thr | Missense | 7 | DNA-binding | 376015 Pathogenic | COSV52697169 Pathogenic (0.99) | 0.31% |
6, 7 | g.7673802C > T | c.818G > A | p.Arg273His | Missense | 8 | DNA-binding | 12366 Pathogenic | COSV52660980 Pathogenic (1.00) | 2.51% |
8 | g.7670700G > C | c.1009C > G | p.Arg337Gly | Missense | 10 | Tetramerization | 237938 VUS | COSV52816817 Pathogenic (0.84) | 10.08% |
9 | g.7670678A > G | c.1031 T > C | p.Leu344Pro | Missense | 10 | Tetramerization | 12375 Likely pathogenic | COSV52687285 Pathogenic (0.99) | 11.44% |