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Table 2 Germline mutations in CEBPA, GATA2, ETV6, DDX41, TERT, and IDH2 found in patients with AML

From: Germline mutations among Polish patients with acute myeloid leukemia

Gene Mutation Amino acid change Exon/
Intron
Prediction by VarSome Variant ID Carriers
n = 103
Frequency in Europe (%) GnomAD
CEBPA c.337_344del p.Ala113ArgfsTer54 Ex1 likely pathogenic 1
c.590_591insACCCGC p.Pro198_Ala199dup Ex1 likely pathogenic COSM7448245 4
c.690G > T p.Thr230= Ex1 benign rs34529039
COSV57196771
14 16.00
GATA2 c.15 C > G p.Pro5= Ex3 benign rs1573858
COSM3749812
21 66.40
c.481 C > G p.Pro161Ala Ex4 benign rs34799090
COSM5762885
1 0.30
c.490G > A p.Ala164Thr Ex4 benign rs2335052
COSM445531
23 18.30
c.564G > C p.Thr188= Ex4 benign rs34870876 19 5.90
c.1018-19 C > T NA Int5 benign rs11708606 27 19.60
c.1233G > A p.Ala411= Ex7 benign rs34172218
COSM5019736
1 2.40
ETV6 c.258G > A p.Thr86= Ex3 benign rs11611479
COSM3752958
12 10.90
c.380G > A p.Arg127Gln Ex4 benign rs140357643 1
c.1075 C > T p.Arg359Ter Ex6 pathogenic rs141938078
COSM3456975
1
DDX41 c.936-23 C > G NA Int9 benign rs335439 56 99.90
c.1200 C > T p.Arg400= Ex11 benign rs335438
COSM3761138
39 47.10
c.1302 + 67_1303-67insAG NA Int12 VUS 1
c.1399 + 46T > C NA Int13 benign 64
c.1732 + 46 A > G NA Int16 benign 52
TERT c.1770-24 C > T NA Int3 benign rs13167280 15 12.90
c.1950 + 10 C > T NA Int4 benign rs33948291 1 1.90
c.3039 C > T p.His1013= Ex14 benign rs33954691
COSM5019111
7 9.70
IDH2 c.419G > A p.Arg140Gln Ex4 pathogenic rs121913502
COSM41590
2 0.01
c.535-40G > A NA Int4 benign rs142033117 2 0.80
c.996 C > T p.Ser332= Ex8 benign rs61737003
COSM4128570
1 2.60
  1. VUS - variant of uncertain significance, Variant ID - variant identifier, NA - no amino acid change, (–) - no data