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 |