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

Editor(s): Ivona AKSENTIJEVICH   

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ADA2ADAM17ALPK1AP1S3CARD14CDC42CEBPECOPAELF4F12HCK
IKBKGIL1R1IL1RNIL36RNLACC1LPIN2LYN
MEFVMVKNCSTNNLRC4NLRP1NLRP12NLRP3NLRP7NOD2OTULIN
PLCG1PLCG2POMPPSMA3PSMB10PSMB4PSMB8PSMB9PSMG2PSTPIP1
RBCK1RELARIPK1SAMD9LSH3BP2SLC29A3STING1
TNFAIP3TNFRSF11ATNFRSF1ATRAP1TRNT1UBA1WDR1

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Total current number of sequence variants for TNFAIP3 : 89

*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.-505397_*1143129del
p.0
g.137683250_139345585del
Likely pathogenicTo be validated
 2022-08-23 
5 flanking
c.0
p.0
del(6)(q23.2q24.1)
Likely pathogenicTo be validated
 2019-03-042020-06-05
intron 1
c.-15-1605_448del
p.0
delEx2-3
Likely pathogenicTo be validated
 2020-04-032020-04-03
exon 2
c.65G>A
p.(Arg22Gln)
R22Q
Uncertain significance (VUS)VALIDATED
 2018-03-052018-08-21
exon 2
c.133C>T
p.(Arg45*)
R45X
PathogenicVALIDATED
 2018-03-23 
exon 2
c.247C>T
p.(Leu83Phe)
L83F
Likely pathogenicTo be validated
 2021-12-092021-12-14
exon 2
c.252delC
p.(Trp85Glyfs*11)
p.W85GfsX11
PathogenicVALIDATED
 2017-04-282018-04-03
exon 2
c.259C>T
p.(Arg87*)
R87X
Likely pathogenicTo be validated
 2019-08-212022-05-16
exon 2
c.271A>T
p.(Lys91*)
K91*
PathogenicTo be validated
 2019-03-042023-07-27
intron 2
c.296-2A>G
p.?
296-2A>G
Likely pathogenicTo be validated
 2019-03-052021-02-19
exon 3
c.305A>G
p.(Asn102Ser)
N102S
Uncertain significance (VUS)To be validated
 2020-08-282021-02-19
exon 3
c.322A>G
p.(Thr108Ala)
T108A
Likely benignTo be validated
 2022-08-23 
exon 3
c.380T>G
p.(Phe127Cys)
P127C
BenignTo be validated
 2024-03-12 
exon 3
c.386C>T
p.(Thr129Met)
T129M
Uncertain significance (VUS)To be validated
 2022-09-14 
exon 3
c.405_406delAC
p.(Arg136Glnfs*3)
D134fs
Likely pathogenicTo be validated
 2019-03-052021-02-19
exon 3
c.421C>T
p.(Arg141Cys)
R141C
Uncertain significance (VUS)To be validated
 2019-05-13 
exon 3
c.440_441del
p.(Leu147Glnfs*7)
c.436-437deTC
PathogenicTo be validated
 2021-05-312021-06-01
exon 3
c.444del
p.(Lys148AsnfsTer68)
K148Nfs*68
Likely pathogenicTo be validated
 2023-04-06 
exon 3
c.460G>T
p.(Glu154*)
E154*
Likely pathogenicTo be validated
 2022-02-182022-12-13
exon 3
c.464C>T
p.(Thr155Met)
T155M
Likely benignTo be validated
 2019-03-182024-08-28
intron 3
c.486+1G>T
p.?
c.486+1G>T
Likely pathogenicTo be validated
 2021-11-10 
exon 4
c.492G>A
p.(Trp164Ter)
W164*
Likely pathogenicTo be validated
 2020-08-28 
exon 4
c.523G>C
p.(Ala175Pro)
A175P
Uncertain significance (VUS)To be validated
 2020-09-302020-12-04
exon 4
c.536C>A
p.(Thr179Lys)
T179K
Likely benignTo be validated
 2024-08-28 
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
 2019-08-212022-06-13
exon 4
c.574G>A
p.(Glu192Lys)
E192K
Likely pathogenicTo be validated
 2021-05-272021-05-27
exon 4
c.598del
p.(Cys200Alafs*16)
C596_598 del A
Likely pathogenicTo be validated
 2018-12-132021-02-19
exon 4
c.608T>G
p.(Leu203Arg)
L203R
Likely pathogenicTo be validated
 2024-10-18 
exon 4
c.619A>C
p.(Ile207Leu)
I207L
Likely benignTo be validated
 2022-08-23 
intron 4
c.634+2T>C
p.Asp212Glyfs*38
p.D212Gfs*38
Likely pathogenicTo be validated
 2023-02-06 
exon 5
c.649A>C
p.(Ser217Arg)
S217R
Uncertain significance (VUS)To be validated
 2023-08-28 
exon 5
c.671delT
p.(Phe224Serfs*4)
p.F224Sfs*4
PathogenicVALIDATED
 2017-04-282022-01-19
exon 5
c.677del
p.(Pro226Leufs*2)
P226Lfs*2
Likely pathogenicTo be validated
 2023-05-08 
exon 5
c.680T>A
p.(Leu227*)
p.L227*
PathogenicVALIDATED
 2017-04-282022-01-19
exon 5
c.707T>C
p.(Leu236Pro)
L236P
Likely pathogenicTo be validated
 2023-10-03 
exon 5
c.728G>A
p.(Cys243Tyr)
C243Y
PathogenicVALIDATED
 2017-04-282017-04-28
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
 2017-04-282022-01-19
exon 6
c.811C>T
p.(Arg271*)
p.R271*
PathogenicVALIDATED
 2017-04-282022-08-16
exon 6
c.821del
p.(Pro274Hisfs*13)
P274Hfs
Likely pathogenicTo be validated
 2021-01-11 
exon 6
c.824T>C
p.(Leu275Pro)
L275P
Likely pathogenicTo be validated
 2022-09-142022-09-14
exon 6
c.874A>C
p.(Thr292Pro)
T292P
Uncertain significance (VUS)To be validated
 2019-05-13 
exon 6
c.910_914del
p.(Lys304Valfs*27)
p.L303fs
PathogenicTo be validated
 2024-03-27 
exon 6
c.918C>G
p.(Tyr306*)
p.Y306*
PathogenicVALIDATED
 2017-04-282022-01-19
exon 6
c.925_927dup
p.(Val309dup)
V309dup
Likely pathogenicTo be validated
 2021-08-262021-08-27
exon 6
c.929T>C
p.(Ile310Thr)
I310T
Uncertain significance (VUS)To be validated
 2021-05-27 
exon 6
c.971_975del
p.(Leu324Glnfs*7)
p.(L324Qfs*7)
PathogenicTo be validated
 2021-12-10 
exon 7
c.(?_989)_(2088+2_?)del
p.?
Exon7–8deletion
Likely pathogenicTo be validated
 2023-02-06 
exon 7
c.994G>T
p.(Glu332*)
E32*
Likely pathogenicTo be validated
 2020-04-022020-12-04
exon 7
c.997dupG
p.(Ala333Glyfs*2)
A333fs2
Likely pathogenicTo be validated
 2020-04-022021-02-19
exon 7
c.1005dup
p.(Pro336Thrfs*9)
P336fs
Likely pathogenicTo be validated
 2019-03-052021-02-19
exon 7
c.1012G>T
p.(Glu338*)
E338*
Likely pathogenicVALIDATED
 2018-03-22 
exon 7
c.1066T>C
-
W356R
PathogenicTo be validated
 2021-11-03 
exon 7
c.1108delC
p.(Gln370Argfs*16)
Q370Rfs*16
Likely pathogenicVALIDATED
 2018-03-22 
exon 7
c.1110_1111del
p.(Asn371Serfs*17)
p.(N371Sfs*17)
PathogenicTo be validated
 2022-08-23 
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
 2017-04-282018-04-03
exon 7
c.1300_1301delinsTA
p.(A434*)
A434*
Likely pathogenicTo be validated
 2023-02-06 
exon 7
c.1301C>T
p.(Ala434Val)
A434V
Uncertain significance (VUS)To be validated
 2021-06-25 
exon 7
c.1318_1319del
p.(Gly440Argfs*4)
c.1316_1317del
Likely pathogenicTo be validated
 2021-10-07 
exon 7
c.1344G>C
p.(Trp448Cys)
W448C
Uncertain significance (VUS)To be validated
 2019-05-132021-02-19
exon 7
c.1345delA
p.(Asn449Thrfs*28)
N449Tfs*28
PathogenicVALIDATED
 2018-03-23 
exon 7
c.1368dup
p.(Pro457Alafs*16)
P457Afs*16
Likely pathogenicTo be validated
 2022-06-03 
exon 7
c.1428G>A
p.(Met476Ile)
M476I
Not classifiedTo be validated
 2019-03-012019-03-04
exon 7
c.1434C>A
p.(Cys478*)
C478*
Likely pathogenicTo be validated
 2019-06-132021-02-19
exon 7
c.1466_1467delTG
p.(Val489Alafs*7)
V489Afs*7
PathogenicVALIDATED
 2018-03-22 
exon 7
c.1501_1510del
p.(Ala501PhefsTer193)
A501Ffs*193
Likely pathogenicTo be validated
 2024-05-16 
exon 7
c.1504C>T
p.(Arg502Trp)
R502W
Uncertain significance (VUS)To be validated
 2021-10-07 
exon 7
c.1507C>T
p.(Gln503*)
Q503*
Likely pathogenicTo be validated
 2020-07-10 
exon 7
c.1573C>G
p.(Leu525Val)
L525V
Uncertain significance (VUS)To be validated
 2024-01-05 
exon 7
c.1639G>A
p.(Ala547Thr)
A547T
Uncertain significance (VUS)To be validated
 2022-08-16 
exon 7
c.1727dupC
p.(His577Alafs*95)
H577Afs*95
PathogenicTo be validated
 2022-02-21 
exon 7
c.1760_1770del11
p.(Ala588Valfs*80)
A588Vfs*80
PathogenicVALIDATED
 2018-03-23 
exon 2
c.1777C>T
p.(Gln593*)
Q593X
Likely pathogenicTo be validated
 2021-05-272021-10-04
exon 7
c.1804A>T
p.(Thr602Ser)
T602S
Likely pathogenicTo be validated
 2022-02-21 
exon 7
c.1807G>A
p.(Gly603Arg)
G603R
Uncertain significance (VUS)To be validated
 2021-10-07 
exon 7
c.1809delG
p.(Thr604Argfs*93)
p.T604Rfs*93
PathogenicVALIDATED
 2017-04-282022-01-19
exon 7
c.1906C>T
p.(His636Ter)
p.His636fsTer1
Likely pathogenicTo be validated
 2019-03-042021-02-19
intron 7
c.1906+1G>C
p.?
c.1906+1G>C
Likely pathogenicTo be validated
 2021-08-262021-08-27
intron 7
c.1906+1G>A
p.?
F637E*2
PathogenicVALIDATED
 2018-03-232018-08-21
intron 7
c.1906+2T>G
p.?
c.1906+2T>G
Likely pathogenicTo be validated
 2022-08-16 
exon 8
c.1939A>C
p.(Thr647Pro)
T647P
Uncertain significance (VUS)To be validated
 2019-06-122021-02-19
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
 2018-03-232018-08-21
exon 9
c.2126A>G
p.(Gln709Arg)
Q709R
Likely benignTo be validated
 2021-05-272021-05-27
exon 9
c.2174T>C
p.(Leu725Pro)
L725P
Uncertain significance (VUS)To be validated
 2022-04-19 
exon 9
c.2209delC
p.(Gln737Serfs*79)
Q737Sfs*79
PathogenicVALIDATED
 2018-03-23 
exon 9
c.2357A>C
p.(Lys786Thr)
K786T
Uncertain significance (VUS)To be validated
 2024-03-21