Table 5 TP53 sequence information.
Case | PPB type | Anaplasia | IARC TP53 nomenclature | Variant type | IARC TP53 database effects | Predicted alleles frequency | P53 expression | Genotype / phenotype match |
|---|---|---|---|---|---|---|---|---|
1 | II | Yes | c.673–1G > C | Unknown | Splice site, intron 6 | 74% | 5% | Yes |
2 | III | Yes | c.518T > C; p.V173A | Missense | SIFT deleterious, exon 5 | 83% | 90% | Yes |
3 | II | No | c.215C > G; p.P72R | Missense | SNP | Heterozygous | 5% | Yes |
4 | II | No | c.215C > G; p.P72R | Missense | SNP | LOH | 1% | Yes |
5 | III | Yes | c.215C > G; p.P72R | Missense | SNP | LOH | 70% | No |
6 | II | Yes | c.1009C > T; p.R337C | Missense | SIFT deleterious, exon 10 | 71% | 80% | Yes |
7 | III | Yes | c.215C > G; p.P72R | Missense | SNP | LOH | 0% | Yes |
8 | III | Yes | c.215C > G; p.P72R | Missense | SNP | LOH | 20% | Yes |
9 | III | Yes | c.513_514insA | Frameshift | Frameshift truncating | 50% | 0% | Yes |
10 | II | Yes | c.215C > G; p.P72R | Missense | SNP | Heterozygous | 5% | Yes |
11 | III | No | c.314G > T; p.G105V | Unknown | SIFT deleterious, exon 4 | 5% | 70% | No |
12 | III | Yes | c.415A > T; p.K139* | Nonsense | Nonsense | 76% | 10% | No |
13 | II | Yes | c.556G > A; p.D186N | Missense | SIFT deleterious, exon 5 | 4% | 10% | Yes |
14 | III | Yes | c.481G > A; p.A161T | Missense | SIFT deleterious, exon 5 | 7% | 20% | Yes |
15 | III | Yes | c.580C > T; p.L194F | Missense | SIFT deleterious, exon 6 | 95% | 90% | Yes |
16 | III | Yes | c.391A > T; p.N131Y | Missense | SIFT deleterious, exon 5 | 36% | 90% | Yes |
