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Table 1 Somatic 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.179dupC p.Ser61ValfsTer47 Ex1 pathogenic COSM18632 1
c.287_311del p.Gly96AlafsTer56 Ex1 likely pathogenic COSV57200088 1
c.402G > A p.Ala134= Ex1 benign rs752254340
COSV57196176
1 0.0
c.536T > C p.Phe179Ser Ex1 VUS 1
c.573 C > T p.His191= Ex1 benign rs192240793
COSV57200682
1 0.9
c.937_939dupAAG p.Lys313dup Ex1 likely pathogenic 1
GATA2 c.919 C > T p.Arg307Trp Ex5 likely pathogenic COSM306052 1
c.959G > A p.Arg320His Ex5 likely pathogenic rs121964985 COSM249854 1 0.1
c.1085G > A p.Arg362Gln Ex6 likely pathogenic rs867160952
COSM87004
1
ETV6 c.463 + 49G > A NA Int4 benign rs17210957 8
c.1090G > T p.Glu364Ter Ex6 pathogenic 1
DDX41 c.409 A > G p.Thr137Ala Ex5 VUS 16
TERT c.835G > A p.Ala279Thr Ex2 benign rs61748181
COSM3760906
2 3.6
c.915G > A p.Ala305= Ex2 benign rs2736098
COSM3760904
15 23.5
c.1573 + 39G > C NA Int2 benign rs79662648 2
c.1574-16G > C NA Int2 benign rs79698601 1 0.6
c.2007_2017del p.Ala670ArgfsTer32 Ex5 pathogenic 7
c.2018_2019insTT p.Gly674SerfsTer41 Ex5 pathogenic 7
c.2020G > A p.Gly674Ser Ex5 VUS rs773813809 COSM6919371 7 0.0
c.2023 C > T p.Leu675Phe Ex5 VUS 7
c.3184G > A p.Ala1062Thr Ex15 benign rs35719940
COSM5019566
1 2.2
c.3324G > A p.Pro1108= Ex16 benign rs35033501
COSM5020092
2 2.9
IDH2 c.327G > A p.Val109= Ex3 benign rs150943639
COSM6867404
1 0.4
c.404 C > A p.Pro135His Ex4 likely pathogenic 1
c.515G > T p.Arg172Met Ex4 pathogenic rs121913503
COSM33732
2
c.709 C > A p.Gln237Lys Ex6 VUS 6
  1. VUS - variant of uncertain significance, Variant ID - variant identifier, NA - no amino acid change, (–) - no data