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. 2023 Jul 31;13:1240865. doi: 10.3389/fonc.2023.1240865

Table 1.

Somatic variants obtained from the WGS bioinformatic analysis.

GENE CHR POSITION REF ALT HGVS.c HGVS.p COVERAGE ALLELE
COVERAGE
FREQUENCY CLINVAR CLINVAR STATUS CANCERVAR gnomAD CADD
PIK3CA chr3 179234297 A G c.3140A>G p.His1047Arg 120 79,41 34.17 % Pathogenic 3 Tier_II_potential [10] . 22.5
TP53 chr17 7675088 C T c.524G>A p.Arg175His 70 31,39 55.71 % Pathogenic 2 Tier_I_strong [11] 1.548e-05 23.4
NFKB2 chr10 102400117 G CLI c.1507G>C p.Val503Leu 68 35,33 48.53 % . -1 Tier_III_Uncertain [3] . 23.7
ATM chr11 108312478 G C c.5986G>C p.Glu1996Gln 106 58,48 45.28 % . -1 Tier_II_potential [8] . 24.1