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. Author manuscript; available in PMC: 2022 Jun 27.
Published in final edited form as: Mod Pathol. 2021 Feb 26;34(6):1104–1115. doi: 10.1038/s41379-021-00735-8

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.