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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%
  1. a, b, c Reference sequence identifiers GRCh38/hg38 NC_000017.11 (genomic), ENST00000269305.9. (transcript) and ENSP00000269305.4 (protein), respectively
  2. d As measured by [33, 34]
  3. e Evidence in favor of likely pathogenic variant in sporadic cancer and/or hereditary cancer-predisposing syndrome; VUS or conflicting interpretation in Li-Fraumeni syndrome