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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