Table-5.
TP53 sequence information
Case | PPB type | IARC TP53 nomenclature | Variant type | IARC TP53 database effects | Predicted alleles frequency | Genotype / phenotype match |
---|---|---|---|---|---|---|
1 | II | c.673-1G>C | Unknown | Splice site, intron 6 | 74% | Yes |
2 | III | c.518T>C; p.V173A | Missense | SIFT deleterious, exon 5 | 83% | Yes |
3 | II | c.215C>G; p.P72R | Missense | SNP | Heterozygous | Yes |
4 | II | c.215C>G; p.P72R | Missense | SNP | LOH | Yes |
5 | III | c.215C>G; p.P72R | Missense | SNP | LOH | No |
6 | II | c.1009C>T; p.R337C | Missense | SIFT deleterious, exon 10 | 71% | Yes |
7 | III | c.215C>G; p.P72R | Missense | SNP | LOH | Yes |
8 | III | c.215C>G; p.P72R | Missense | SNP | LOH | Yes |
9 | III | c.513_514insA | Frameshift | Frameshift truncating | 50% | Yes |
10 | II | c.215C>G; p.P72R | Missense | SNP | Heterozygous | Yes |
11 | III | c.314G>T; p.G105V | Unknown | SIFT deleterious, exon 4 | 5% | No |
12 | III | c.415A>T; p.K139* | Nonsense | Nonsense | 76% | No |
13 | II | c.556G>A; p.D186N | Missense | SIFT deleterious, exon 5 | 4% | Yes |
14 | III | c.481G>A; p.A161T | Missense | SIFT deleterious, exon 5 | 7% | Yes |
15 | III | c.580C>T; p.L194F | Missense | SIFT deleterious, exon 6 | 95% | Yes |
16 | III | c.391A>T; p.N131Y | Missense | SIFT deleterious, exon 5 | 36% | Yes |
Abbreviations: PPB – pleuropulmonary blastoma; IARC – International Agency for Research on Cancer; SIFT – sorting intolerant from tolerant; SNP – single nucleotide polymorphism; LOH – loss of heterozygosity.