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Table 1 Clinical characteristics of patients with TET2 gene germline mutations

From: Pedigree investigation, clinical characteristics, and prognosis analysis of haematological disease patients with germline TET2 mutation

Patient No.

Gender

Diagnosis

VAF

Mutation type

Mutation site

Exon

Karyotype

MAF

1000 genome

ExAC

Age (<=60 years)

1

M

Neutropenia

0.5234

missense

c.2604 T > G(p.Phe868Leu)

3

46,XY [20]

0.0024

0.0024

0.00233

2

F

?

0.5048

missense

c.2604 T > G(p.Phe868Leu)

3

46,XY [20]

0.0024

0.0024

0.00233

3

F

?

0.493

missense

c.455G > A(p.Ser152Asn)

3

NA

NR

NR

NR

4

M

MDS-U

0.5258

missense

c.2604 T > G(p.Phe868Leu)

3

46,XX [20],+(8), UPD(11p)

0.0024

0.0024

0.00233

5

M

?

0.509

missense

c.3116C > T(p.Ser1039Leu)

3

NA

0.0012

0.0012

0.00161

6

M

CML

0.5416

missense

c.2604 T > G(p.Phe868Leu)

3

NA

0.0024

0.0024

0.00233

7

F

AA

0.5285

missense

c.3116C > T(p.Ser1039Leu)

3

46,XX [20]

0.0012

0.0012

0.00161

8

M

?

0.4902

missense

c.2604 T > G(p.Phe868Leu)

3

NA

0.0024

0.0024

0.00233

9

M

HC

0.502

missense

c.3116C > T(p.Ser1039Leu)

3

NA

0.0012

0.0012

0.00161

10

F

AA

0.511

missense

c.3116C > T(p.Ser1039Leu)

3

46,XY [20]

0.0012

0.0012

0.00161

11

F

AML-M2

0.475

missense

c.3728A > G(p.Lys1243Arg)

6

46,XX,t(8;21)(q22;q22)

NR

NR

NR

12

F

?

0.4841

missense

c.3116C > T(p.Ser1039Leu)

3

NA

0.0012

0.0012

0.00161

13

M

AA

0.482

missense

c.3106C > T(p.His1036Tyr)

3

46,XY [15]

NR

NR

NR

14

F

IDA

0.5224

missense

c.2604 T > G(p.Phe868Leu)

3

46,XY [20]

0.0024

0.0024

0.00233

15

M

MDS-U

0.5094

missense

c.2604 T > G(p.Phe868Leu)

3

46,XY [20]

0.0024

0.0024

0.00233

16

F

AML-M4

0.4867

missense

c.2440C > T(p.Arg814Cys)

3

46,XY [20]

0.0014

0.0014

0.0006

17

F

MDS-SLD

0.5023

missense

c.5816A > G(p.Tyr1939Cys)

3

46,XX [20]

NR

NR

NR

18

M

?

0.512

missense

c.1712G > A(p.Arg571His)

3

NA

NR

NR

0.00003

19

M

MDS-EB2

0.4984

missense

c.2604 T > G(p.Phe868Leu

3

44 ~ 45,XY,-6,-7,+ 13,-17,-21,-22

+r,+ 3-, 4mar,inc[cp4]/46,XY [1]

0.0024

0.0024

0.00233

20

M

MDS-SLD

0.5332

missense

c.3116C > T(p.Ser1039Leu)

3

46,XY [20]

0.0012

0.0012

0.00161

21

F

AML-M2

0.5253

missense

c.2604 T > G(p.Phe868Leu)

3

46,XX, t(6;11)(q27;q23) [19]/46,xx [1]

0.0024

0.0024

0.00233

22

F

MDS-EB2

0.5061

missense

c.427G > A(p.Asp143Asn)

3

46,XX [20]

NR

NR

0.00003

Age (> 60 years)

23

F

MDS-RA

0.5058

missense

c.2440C > T(p.Arg814Cys)

3

46,XX [20]

0.0014

0.0014

0.0006

24

F

MDS-SLD

0.4912

missense

c.2440C > T(p.Arg814Cys)

3

47,XX,+add(1)(p11.2) [20]

0.0014

0.0014

0.0006

25

F

AA

0.5078

missense

c.2440C > T(p.Arg814Cys)

3

46,XY [20]

0.0014

0.0014

0.0006

26

F

MDS-U

0.4835

missense

c.218G > A(p.Arg73His)

3

46,XX,-20,+mar [20]

NR

NR

0.00001

27

M

MDS-EB2

0.55

missense

c.2604 T > G(p.Phe868Leu)

3

46,XY,der(7)t(1;7)

(q10;p10) [20]

0.0024

0.0024

0.00233

28

M

MDS-MLD

0.5125

missense

c.3116C > T(p.Ser1039Leu)

3

46,XX [20]

0.0012

0.0012

0.00161

29

M

?

0.4965

missense

c.3116C > T(p.Ser1039Leu)

3

46,XY [20]

0.0012

0.0012

0.00161

30

M

MDS-RAEB1

0.4845

missense

c.4183G > A(p.Val1395Ile)

10

46 ~ 48,XY,+ 1,-5,del(5)

(q13q33),+ 8,-9,-18,-20,

+ 2 ~ 4mar1,+mar2[cp20]

NR

NR

NR

31

M

MDS-RAEB2

0.5259

missense

c.2604 T > G(p.Phe868Leu)

3

46,XX [20]

0.0024

0.0024

0.00233

32

M

ITP

0.4985

missense

c.3116C > T(p.Ser1039Leu)

3

46,XY [20]

0.0012

0.0012

0.00161

33

M

?

0.5002

missense

c.2604 T > G(p.Phe868Leu)

3

46,XX [13]

0.0024

0.0024

0.00233

  1. Abbreviation: Patient No patient’s number; VAF variate allele frequency; MAF minor allele frequency; ExAC Exome Aggregation Consortium; M male; F female; HC hepatic cirrhosis; IDA iron deficiency anemia; NA no available; NR no report;?, undiagnosed; AML acute myeloid leukemia; MDS myelodysplastic syndrome; MDS-RA MDS with refractory anemia; MDS-SLD MDS with single lineage dysplasia; MDS-U MDS unclassifiable; MDS-RAEB1 MDS with refractory anemia and excess blast-1; MDS-RAEB-2 MDS with refractory anemia and excess blast-2; MDS-EB2 MDS with excess blast-2; (BM > 10–19% or PB 5–19%); MDS-MLD MDS with multilineage dysplasia; CML chronic myeloid leukemia; AA aplastic anemia