TNFAIP3 (NM_006290.3) sequence variants
(A20, AISBL, OTUD7C, TNFA1P2)

Editor(s): Ivona AKSENTIJEVICH   

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Total current number of sequence variants for TNFAIP3 : 36

*This classification is proposed by I Ceccherini, D Rowczenio, Y Shinar, I Touitou, M van Gijn. If you have new data: please send us a re-evaluation proposal here

Usual name*
HGVS sequence name
HGVS protein name
Classification *
Status *
Simple variant
Complex alleles
del(6)(q23.2q24.1)
5 flanking
c.0
p.0Likely pathogenicTo be validated
 2019-03-04
R22Q
exon 2
c.65G>A
p.(Arg22Gln)Uncertain significance (VOUS)VALIDATED
 2018-03-05
R45X
exon 2
c.133C>T
p.(Arg45*)PathogenicVALIDATED
 2018-03-23
p.W85GfsX11
exon 2
c.252delC
p.(Trp85Glyfs*11)PathogenicVALIDATED
 2017-04-28
K91*
exon 2
c.271A>T
p.(Lys91*)Likely benignTo be validated
 2019-03-04
296-2A>G
intron 2
c.296-2A>G
-Not classifiedTo be validated
 2019-03-05
D134fs
exon 3
c.405_406delAC
p.(Arg136Glnfs*3)Not classifiedTo be validated
 2019-03-05
R141C
exon 3
c.421C>T
p.(Arg141Cys)Uncertain significance (VOUS)To be validated
 2019-05-13
T155M
exon 3
c.464C>T
p.(Thr155Met)Likely pathogenicTo be validated
 2019-03-18
C596_598 del A
exon 4
c.598del
p.(Cys200Alafs*16)Not classifiedTo be validated
 2018-12-13
p.F224Sfs*4
exon 5
c.671delT
p.(Phe224Serfs*4)PathogenicVALIDATED
 2017-04-28
p.L227*
exon 5
c.680T>A
p.(Leu227*)PathogenicVALIDATED
 2017-04-28
C243Y
exon 5
c.728G>A
p.(Cys243Tyr)PathogenicVALIDATED
 2017-04-28
D253_F257DEL
exon 5
c.756_770del
p.(Asp253_Phe257del)Not classifiedTo be validated
 2019-05-13
p.P268Lfs*19
exon 5
c.801del
p.(Pro268Leufs*19)PathogenicVALIDATED
 2017-04-28
p.R271*
exon 6
c.811C>T
p.(Arg271*)PathogenicVALIDATED
 2017-04-28
T292P
exon 6
c.874A>C
p.(Thr292Pro)Uncertain significance (VOUS)To be validated
 2019-05-13
p.Y306*
exon 6
c.918C>G
p.(Tyr306*)PathogenicVALIDATED
 2017-04-28
P336fs
exon 7
c.1005dup
p.(Pro336Thrfs*9)Not classifiedTo be validated
 2019-03-05
E338*
exon 7
c.1012G>T
p.(Glu338*)Likely pathogenicVALIDATED
 2018-03-22
Q370Rfs*16
exon 7
c.1108delC
p.(Gln370Argfs*16)Likely pathogenicVALIDATED
 2018-03-22
D384G
exon 7
c.1151A>G
p.(Asp384Gly)Uncertain significance (VOUS)To be validated
 2019-05-13
Q415fs
exon 7
c.1249_1252del
p.(Lys417Serfs*4)PathogenicVALIDATED
 2017-04-28
W448C
exon 7
c.1344G>C
p.(Trp448Cys)Likely pathogenicTo be validated
 2019-05-13
N449Tfs*28
exon 7
c.1345delA
p.(Asn449Thrfs*28)PathogenicVALIDATED
 2018-03-23
M476I
exon 7
c.1428G>A
p.(Met476Ile)Not classifiedTo be validated
 2019-03-01
C478*
exon 7
c.1434C>A
p.(Cys478*)Not classifiedTo be validated
 2019-06-13
V489Afs*7
exon 7
c.1466_1467delTG
p.(Val489Alafs*7)PathogenicVALIDATED
 2018-03-22
A588Vfs*80
exon 7
c.1760_1770del11
p.(Ala588Valfs*80)PathogenicVALIDATED
 2018-03-23
p.T604Rfs*93
exon 7
c.1809delG
p.(Thr604Argfs*93)PathogenicVALIDATED
 2017-04-28
p.His636fsTer1
exon 7
c.1906C>T
p.(His636Ter)Likely pathogenicTo be validated
 2019-03-04
F637E*2
intron 7
c.1906+1G>A
p.?PathogenicVALIDATED
 2018-03-23
T647P
exon 8
c.1939A>C
p.(Thr647Pro)Likely pathogenicTo be validated
 2019-06-12
I679T
exon 8
c.2036T>C
p.(Ile679Thr)Uncertain significance (VOUS)To be validated
 2019-05-13
H636Efs55
intron 8
c.2088+5G>C
p.?PathogenicVALIDATED
 2018-03-23
Q737Sfs*79
exon 9
c.2209delC
p.(Gln737Serfs*79)PathogenicVALIDATED
 2018-03-23