TNFAIP3 (NM_006290.4) sequence variants
(A20, AISBL, OTUD7C, TNFA1P2)

Editor(s): Ivona AKSENTIJEVICH   

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ADA2AP1S3CARD14CDC42F12IKBKGIL10IL10RAIL10RBIL1RNIL36RNLACC1LPIN2
MEFVMVKNCSTNNLRC4NLRP1NLRP12NLRP3NLRP7NOD2OTULIN
PLCG2POMPPSMA3PSMB10PSMB4PSMB8PSMB9PSMG2PSTPIP1RBCK1RIPK1
SAMD9LSH3BP2SLC29A3STING1TNFAIP3TNFRSF11ATNFRSF1ATRAP1TRNT1WDR1

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Total current number of sequence variants for TNFAIP3 : 39

*Name as first published or submitted to Infevers. May be different from the HGVS edited protein and sequence names.

**This classification is proposed by the INSAID study group. Ref. If you have new data: please send us a re-evaluation proposal here

HGVS sequence name
HGVS protein name
Usual name*
Classification**
Status**
Simple variant
Complex alleles
5 flanking
c.0
p.0
del(6)(q23.2q24.1)
Likely pathogenicTo be validated
 2019-03-04
exon 2
c.65G>A
p.(Arg22Gln)
R22Q
Uncertain significance (VUS)VALIDATED
 2018-03-05
exon 2
c.133C>T
p.(Arg45*)
R45X
PathogenicVALIDATED
 2018-03-23
exon 2
c.252delC
p.(Trp85Glyfs*11)
p.W85GfsX11
PathogenicVALIDATED
 2017-04-28
exon 2
c.259C>T
p.(Arg87*)
R87X
Likely pathogenicTo be validated
 2019-08-21
exon 2
c.271A>T
p.(Lys91*)
K91*
Likely benignTo be validated
 2019-03-04
intron 2
c.296-2A>G
-
296-2A>G
Not classifiedTo be validated
 2019-03-05
exon 3
c.405_406delAC
p.(Arg136Glnfs*3)
D134fs
Not classifiedTo be validated
 2019-03-05
exon 3
c.421C>T
p.(Arg141Cys)
R141C
Uncertain significance (VUS)To be validated
 2019-05-13
exon 3
c.464C>T
p.(Thr155Met)
T155M
Likely pathogenicTo be validated
 2019-03-18
exon 4
c.547C>T
p.(Arg183*)
R183*
PathogenicTo be validated
 2019-08-21
exon 4
c.559C>T
p.(Gln187*)
Q187X
Likely pathogenicTo be validated
 2019-08-21
exon 4
c.598del
p.(Cys200Alafs*16)
C596_598 del A
Not classifiedTo be validated
 2018-12-13
exon 5
c.671delT
p.(Phe224Serfs*4)
p.F224Sfs*4
PathogenicVALIDATED
 2017-04-28
exon 5
c.680T>A
p.(Leu227*)
p.L227*
PathogenicVALIDATED
 2017-04-28
exon 5
c.728G>A
p.(Cys243Tyr)
C243Y
PathogenicVALIDATED
 2017-04-28
exon 5
c.756_770del
p.(Asp253_Phe257del)
D253_F257DEL
Not classifiedTo be validated
 2019-05-13
exon 5
c.801del
p.(Pro268Leufs*19)
p.P268Lfs*19
PathogenicVALIDATED
 2017-04-28
exon 6
c.811C>T
p.(Arg271*)
p.R271*
PathogenicVALIDATED
 2017-04-28
exon 6
c.874A>C
p.(Thr292Pro)
T292P
Uncertain significance (VUS)To be validated
 2019-05-13
exon 6
c.918C>G
p.(Tyr306*)
p.Y306*
PathogenicVALIDATED
 2017-04-28
exon 7
c.1005dup
p.(Pro336Thrfs*9)
P336fs
Not classifiedTo be validated
 2019-03-05
exon 7
c.1012G>T
p.(Glu338*)
E338*
Likely pathogenicVALIDATED
 2018-03-22
exon 7
c.1108delC
p.(Gln370Argfs*16)
Q370Rfs*16
Likely pathogenicVALIDATED
 2018-03-22
exon 7
c.1151A>G
p.(Asp384Gly)
D384G
Uncertain significance (VUS)To be validated
 2019-05-13
exon 7
c.1249_1252del
p.(Lys417Serfs*4)
Q415fs
PathogenicVALIDATED
 2017-04-28
exon 7
c.1344G>C
p.(Trp448Cys)
W448C
Likely pathogenicTo be validated
 2019-05-13
exon 7
c.1345delA
p.(Asn449Thrfs*28)
N449Tfs*28
PathogenicVALIDATED
 2018-03-23
exon 7
c.1428G>A
p.(Met476Ile)
M476I
Not classifiedTo be validated
 2019-03-01
exon 7
c.1434C>A
p.(Cys478*)
C478*
Not classifiedTo be validated
 2019-06-13
exon 7
c.1466_1467delTG
p.(Val489Alafs*7)
V489Afs*7
PathogenicVALIDATED
 2018-03-22
exon 7
c.1760_1770del11
p.(Ala588Valfs*80)
A588Vfs*80
PathogenicVALIDATED
 2018-03-23
exon 7
c.1809delG
p.(Thr604Argfs*93)
p.T604Rfs*93
PathogenicVALIDATED
 2017-04-28
exon 7
c.1906C>T
p.(His636Ter)
p.His636fsTer1
Likely pathogenicTo be validated
 2019-03-04
intron 7
c.1906+1G>A
p.?
F637E*2
PathogenicVALIDATED
 2018-03-23
exon 8
c.1939A>C
p.(Thr647Pro)
T647P
Likely pathogenicTo be validated
 2019-06-12
exon 8
c.2036T>C
p.(Ile679Thr)
I679T
Uncertain significance (VUS)To be validated
 2019-05-13
intron 8
c.2088+5G>C
p.?
H636Efs55
PathogenicVALIDATED
 2018-03-23
exon 9
c.2209delC
p.(Gln737Serfs*79)
Q737Sfs*79
PathogenicVALIDATED
 2018-03-23