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Table 2 NF1 Mutational profile of the 100 NF1 blood samples tested in NGS study

From: Genetic diagnosis of neurofibromatosis type 1: targeted next- generation sequencing with Multiple Ligation-Dependent Probe Amplification analysis

Patient

Codinga

Amino Acid Change

Variant Effect

NM_000267.3

SIFT

Polyphen2

Wu p001

c.492_495 del AACT/Het

p.Val166fs

Frameshift Deletion

Exon 5

  

Wu p002

c.5844C > A

p.Tyr1948Ter

nonsense

Exon 40

  

Wu p003

c.1466A > G, c.1400C > T, c.1448A > G, c.1513A > G

p.Tyr489Cys

missense

Exon 13

Tolerated

Benign

Wu p004

c.6855C > A

p.Tyr2285Ter

nonsense

Exon 46

Tolerated

 

Wu p006

c.2982_2982delT

p.Leu995fs

Frameshift Deletion

Exon 22

  

Wu p007

c.1105C > T

p.Gln369Ter

nonsense

Exon 10

Tolerated

 

Wu p009

c.7862_7862delC

p.Thr2621fs

Frameshift Deletion

Exon 54

  

Wu p010

c.5902C > T

p.Arg1968Ter

nonsense

Exon 40

Tolerated

 

Wup011

c.7152_7157del TAACTT

p.2384_2386del

Deletion

Exon 49

  

Wu p014

c.3113 + 1 G > A

.

splicing

Exon 23

  

Wu p015

c.4700C > G

p.Ser1567Ter

nonsense

Exon 36

Tolerated

 

Wu p017

c.487G > T

p.Glu163Ter

nonsense

Exon 5

  

Wu p018

c.6970C > T

p.Gln2324Ter

nonsense

Exon 47

Damaging

 
 

c.8386A > C

p.Lys2796Gln

missense

Exon 58

Damaging

Possibly damaging

 

c.8520 + 125 del C (Intron)

 

Frameshift Deletion

Exon 58

  

Wu p019

c.575G > A

p.Arg192Gln

missense

Exon 5

Tolerated

Benign

 

c.1422_1422delC

p.Lys476fs

Frameshift Deletion

Exon 13

  

Wu p021

c.1080_1083delAAGT

p.Lys362fs

Frameshift Deletion

Exon 10

  

Wu p022

c.1062G > C

p.Lys354Asn

missense

Exon 9

Tolerated

Possibly damaging

Wu p023

c.1062G > C

p.Lys354Asn

missense

Exon 9

Tolerated

Possibly damaging

Wu p024

c.1658A > C

p.His553Pro

missense

Exon 15

D

Possibly damaging

Wu p025

c.4316 T > A

p.Leu1439Ter

nonsense

Exon 32

Tolerated

 

Wu p027

c.1754_1757delTAAC

p.Thr586fs

Frameshift Deletion

Exon 16

  

Wu p030

c.5665G > T

p.Glu1889Ter

nonsense

Exon 39

Tolerated

 

Wu p032

c.2266C > T

p.Gln756Ter

nonsense

Exon 19

Damaging

 

Wu p033

c.7348C > T

p.Arg2450Ter

nonsense

Exon 50

Tolerated

 

Wu p034

c.910C > T

p.Arg304Ter

nonsense

Exon 9

Tolerated

 

Wu p035

c.5580_5581insA

p.Asn1861fs

Frameshift Insertion

Exon 38

  

Wu p038

c.1246C > T

p.Arg416Ter

nonsense

Exon 11

Tolerated

 

Wu p039

c.492_495 del AACT/He

p.Val166fs

Frameshift Deletion

Exon 5

  

Wu p041

c.910C > T

p.Arg304Ter

nonsense

Exon 9

Tolerated

 

Wu p043

c. 3796 G > T

p.Glu1266Ter

nonsense

Exon28

Tolerated

 

Wu p044

c.86_87delAC

p.29_29del

frameshift deletion

Exon2

  

Wu p045

c.6618_6618 delA

p.Thr2206fs

frameshift deletion

Exon43

  

Wu p047

c. 6818 A > C

p.Lys2273 Thr

missense

Exon46

Tolerated

Possibly damaging

Wu p048

c. 910 C > T

p.Arg304Ter

nonsense

Exon9

Tolerated

 

Wu p050

c.2212dupT

p.Phe738fs

frameshift insertion

Exon18

  

Wu p051

c. 5170 C > T

p.Gln1724Ter

nonsense

Exon37

Tolerated

 

Wu p052

c. 1224 T > A

p.Tyr408Ter

nonsense

Exon11

Tolerated

 

Wu p053

c.7266_7267del AC

p.2422_2423del

frameshift deletion

Exon49

  

Wu p054

c. 574 C > T

p.Arg192Ter

nonsense

Exon5

Tolerated

 

Wu p055

c. 574 C > T

p.Arg192Ter

nonsense

Exon5

Tolerated

 

Wu p058

c. 3040 A > T

p.K1014Ter

nonsense

Exon23

  

Wu p059

c.288 + 1G > T

.

splicing

Exon3

  

Wu p060

c.4509dupT

p.Asn1503fs

frameshift insertion

Exon34

  

Wu p064

c. 479 G > T

p.Arg160Met

missense

Exon4

Damaging

Possibly damaging

Wu p066

c.1592delA

p.Gln531fs

frameshift deletion

Exon14

  

Wu p067

c.8070dupC

p.Tyr2690fs

frameshift insertion

Exon56

  

Wu p068

c.288 + 1G > T

.

splicing

Exon3

  

Wu p070

c.4990_4992AAA (GTT)

.

nonframeshift substitution

Exon37

  

Wu p071

c. 3826 C > T

p.Arg1276Ter

nonsense

Exon28

Tolerated

 

Wu p073

c.2340_2346delACATGCA

p.780_782del

frameshift deletion

Exon20

  

Wu p074

c. 4107 C > A

p.Tyr1369Ter

nonsense

Exon30

Tolerated

 

Wu p075

c. 5651 T > G

p.Phe1884Cys

missense

Exon39

Damaging

Damaging

Wu p076

c. 3888 T > G

p.Tyr1296Ter

nonsense

Exon29

Tolerated

 

Wu p077

c. 3484 A > G

p.Met1162Val

missense

Exon26

Tolerated

Benign

Wu p077

c. 7189 G > A

p.Gly2397Arg

missense

Exon49

Damaging

Damaging

Wu p080

c. 1933 A > G

p.Met645Val

missense

Exon17

Tolerated

Benign

Wu p081

c.1754_1757del

p.Leu585fs

frameshift deletion

Exon16

  

Wu p083

c.2953dupC

p.Gly984fs

frameshift insertion

Exon22

  

Wu p086

c.6855C > A

p.Tyr2285Ter

nonsense

Exon46

Tolerated

 

Wu p087

c. 4940 A > C

p.His1647Pro

missense

Exon37

Tolerated

Damaging

Wu p088

c.1754_1757del

p.Leu585fs

frameshift deletion

Exon16

  

Wu p089

c. 1466 A > G

p.Tyr489Cys

missense

Exon13

Tolerated

Damaging

Wu p090

c. 376 G > T

p.Glu126Ter

nonsense

Exon4

Damaging

 

Wu p092

c. 3827 G > A

p.Arg1276Gln

missense

Exon28

 

Damaging

Wu p094

c. 3796 G > T

p.Glu1266Ter

nonsense

Exon28

Tolerated

Damaging

Wu p095

c.1693dupG

p.Asp564fs

frameshift insertion

Exon15

  

Wu p098

c.1754_1757del

p.Leu585fs

frameshift deletion

Exon16

  

Wu p100

c. 1318 C > T

p.Arg440Ter

nonsense

Exon12

Tolerated

 
  1. abold lettering indicated as novel variants
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Journal of Biomedical Science

ISSN: 1423-0127