Table 2 Genotype characteristics of NF2 patients.

From: Early prediction of functional prognosis in neurofibromatosis type 2 patients based on genotype–phenotype correlation with targeted deep sequencing

Pt

Sex

Onset age

Follow-up

Germline/Mosaicism

VAF (%)

NF2 variant

Amino acid

Exon

Mutation type

NF2 variant in tumor

1

M

14

5

G

#

c.1021C>T

p.Arg341*

Ex11

Nonsense

c.1021C>T

2

M

14

14

G

#

c.1084C>T

p.Gln362*

Ex11

Nonsense

c.1084C>T

3

F

5

21

G

#

c.1345A>T

p.Lys449*

Ex13

Nonsense

c.1345A >T

4

M

9

11

G

#

c.1526delT

p.Glu509Sfs*6

Ex14

Fr. del

Unavailable

5

F

22

21

G

#

c.140_141del

p.Phe47*

Ex2

Fr. del

Unavailable

6

M

9

7

G

#

c.169C>T

p.Arg57*

Ex2

Nonsense

c.169C>T

7

F

4

16

G

#

c.580delG

p.Glu194Sfs*15

Ex6

Fr. del

c.580delG

8

M

16

20

G

#

c.572G>A

p.Trp191*

Ex6

Nonsense

c.572G>A

9

M

24

9

G

#

c.592C>T

p.Arg198*

Ex6

Nonsense

Unavailable

10

F

13

22

G

#

c.634C>T

p.Gln212*

Ex7

Nonsense

c.634C>T

11

F

12

12

G

#

c.784C>T

p.Arg262*

Ex8

Nonsense

c.784C>T

12

F

16

14

G

#

c.213delA

p.Val72Wfs*51

Ex2

Fr. del

c.213delA

13

F

15

19

G

#

Exon deletion

 

Ex.1–6

Large del

Unavailable

14

M

20

12

G

#

Exon deletion

 

Ex.2–16

Large del

Unavailable

15

F

26

12

G

#

Exon deletion

 

Ex.15

Large del

Unavailable

16

M

26

11

G

#

Exon deletion

 

Ex.1–16

Large del

Ex.1–16 deletion

17

M

20

17

G

#

c.1447-20_1447-3del

 

Ex14

Splice site

c.1447-20_1447-3del

18

M

23

11

G

#

c.363 + 1G>A

 

Ex3

Splice site

c.363 + 1G >A

19

M

14

8

G

#

c.1122 + 2 T>C

 

Ex11

Splice site

Unavailable

20

F

12

27

G

#

c.1446 + 1G>C

 

Ex13

Splice site

Unavailable

21

M

12

27

G

#

c.1341-2A>G

 

Ex13

Splice site

Unavailable

22

M

23

12

G

#

c.1575-1G>A

 

Ex15

Splice site

c.1575-1G>A

23

M

37

21

G

#

c.1575-1G>A

 

Ex15

Splice site

c.1575-1G>A

24

F

26

16

G

#

c.448-2A>T

 

Ex5

Splice site

c.448-2A>T

25

F

33

24

G

#

c.517-2A>G

 

Ex6

Splice site

Unavailable

26

F

29

12

G

#

c.1340G>A

p.Arg447Lys

Ex12

Missense

c.1340G>A

27

F

24

13

G

#

c.239A>G

p.Lys80Arg

Ex2

Missense

c.239A>G

28

F

28

21

G

#

c.137 T>A

p.Leu46His

Ex2

Missense

c.137 T>A

29

M

22

9

M

11

c.1611_1651del

p.Glu537Aspfs*14

Ex15

Nonsense

Unavailable

30

F

25

22

M

10

c.169C>T

p.Arg57*

Ex2

In-fr. del

c.169C>T

31

F

21

19

M

10

c.286_288del

p.Phe96del

Ex3

Fr. del

c.286_288del

32

M

11

14

M

9.4

c.1396C>T

p.Arg466*

Ex13

Nonsense

Unavailable

33

M

46

15

M

9.1

c.1366C>T

p.Gln456*

Ex13

Nonsense

c.1366C>T

34

F

32

17

M

7.2

c.1174G>T

p.Glu392*

Ex12

Nonsense

Unavailable

35

F

19

17

M

5.2

c.36_37del

p.Leu14Glnfs*34

Ex1

Fr. del

Unavailable

36

M

61

13

M

4.0

c.592C>T

p.Arg198*

Ex6

Nonsense

c.592C > T

37

F

56

19

M

2.8

c.586C>T

p.Arg196*

Ex6

Nonsense

c.586C > T

38

M

33

4

M

2.1

c.1366C>T

p.Gln456*

Ex13

Nonsense

Unavailable

39

M

33

13

M

1.7

c.784C>T

p.Arg262*

Ex8

Nonsense

c.784C>T

40

F

17

10

M

1.4

c.439C>A

p.Gln147Lys

Ex4

Missense

Unavailable

41

F

39

8

M

1.0

c.361C>T

p.Gln121*

Ex3

Nonsense

c.361C>T

42

F

37

8

M

0.9

c.334G>T

p.Glu112*

Ex3

Nonsense

Unavailable

43

F

45

15

M

0.9

c.1396C>T

p.Arg466*

Ex13

Nonsense

Unavailable

44

F

60

11

M

0.8

c.1766G>A

p.Cys589Tyr

Ex16

Missense

Unavailable

45

M

30

18

M

0.8

c.293_303del

p.Lys99*

Ex3

Fr. del

Undetected

46

F

22

14

M

0.7

c.1439C >T

p.Thr480Met

Ex13

Missense

Unavailable

47

F

29

11

M

0.5

c.773G>A

p.Trp258*

Ex8

Nonsense

c.773G>A

48

F

36

5

M

0.1

c.892C>T

p.Gln298*

Ex10

Nonsense

c.892C>T

49

F

16

6

Undetected

     

Unavailable

50

F

21

24

Undetected

     

Unavailable

51

M

25

23

Undetected

     

Unavailable

52

M

24

23

Undetected

     

Undetected

53

F

17

22

Undetected

     

Unavailable

54

F

59

5

Undetected

     

Unavailable

55

F

32

8

Undetected

     

Undetected

56

F

22

5

Undetected

     

Undetected

57

M

43

15

Undetected

     

Unavailable

  1. VAF, variant allele frequency; G, germline; M, mosaicism; Fr., frameshift; Del., deletion, #, we detected germline NF2 alteration with Sanger sequence and MLPA.
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