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. 2020 Nov 30;28(5):1477–1492. doi: 10.1038/s41418-020-00672-0

Fig. 2. Identification of specific TP53 variants in the Asian population.

Fig. 2

A Geographical distribution of rs1042522 (p.P72R) and rs1800371 (p.P47S) in the various subsets of gnomAD. B Distribution of six new potential constitutional TP53 variants in the various subsets of gnomAD (left) and in the specific population datasets (right). ALL all populations, AFR African/African American, AMR admixed American, ASJ Ashkenazi Jewish, EAS East Asian, FIN, Finnish, NFE non-Finnish European, OTH other unassigned populations, SAS South Asian. C Ethnicity origin of the six variants described in the literature of the UMD_TP53 database. * and **: including two or three different cell lines, respectively. D, E Germline-to-somatic (GVS) ratio of TP53 variants in the UMD_TP53 database. D A box-plot analysis of the GVS ratio shows that the vast majority of TP53 variants had similar values. Ten outlier variants above the 95% confidence interval had high frequency as germline variants in the database and could be benign SNPs. TP53 variants found below the 5% interval were never found as germline variants in the database; they corresponded to specific TP53 variants associated with carcinogen exposure, such as p.R249S found in aflatoxin B1-associated hepatocellular carcinoma, and p.V157F found in tobacco-associated lung cancer. The box-and-whisker plot shows the interquartile range (box), median value (horizontal line inside the box), and full-range distribution (whiskers) for the GVS ratio. E Detailed analysis of the germline ratio. The ten outlier variants are shown in red. Values for six hot spot TP53 variants are shown in black. This analysis was performed on 195 TP53 variants with at least five occurrences as germline variants in the database.