TNFRSF1A (NM_001065.4) sequence variants

Editor(s): Ivona AKSENTIJEVICH   

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Total current number of sequence variants for TNFRSF1A : 183

*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.-610G>T
p.?
-609 G/T
Not classifiedTo be validated
 2003-04-232008-05-09
5 flanking
c.-581A>G
p.?
-580 A/G
Not classifiedTo be validated
 2003-08-042007-07-02
5 flanking
c.-559G>A
p.?
c.-559G>A
Not classifiedTo be validated
 2011-06-10 
5 flanking
c.-508A>G
p.?
-508 A/G
Not classifiedTo be validated
 2003-07-142018-11-06
5 flanking
c.-383A>C
p.?
-383 A/C
Not classifiedTo be validated
 2003-04-252007-07-02
exon 1
c.15C>T
p.(Thr5=)
c.15C>T
Likely benignVALIDATED
 2017-08-212019-01-15
exon 1
c.36A>G
p.(Pro12=)
c.36A>G
BenignVALIDATED
 2003-04-252022-01-21
intron 1
c.39+97G>A
p.?
c.39+97G>A
Likely benignVALIDATED
 2011-06-10 
intron 1
c.39+1899(GT)17(GA)10
p.?
c.39+1899(GT)n(GA)n
Not classifiedTo be validated
 2003-07-14 
intron 1
c.40-3367C>T
p.?
c.40-3367C>T
Likely benignVALIDATED
 2012-06-01 
intron 1
c.40-981C>T
p.?
c.40-981C>T
Likely benignVALIDATED
 2011-06-10 
exon 2
c.59T>C
p.(Val20Ala)
c.59T>C
Uncertain significance (VUS)PROVISIONAL
 2011-08-242022-01-19
exon 2
c.81T>C
p.(Val27=)
c.81T>C
Likely benignVALIDATED
 2017-08-18 
exon 2
c.123T>G
p.(Asp41Glu)
D12E
Uncertain significance (VUS)VALIDATED
 2006-03-09 
exon 2
c.131G>A
p.(Cys44Tyr)
C15Y
Likely pathogenicVALIDATED
 2017-01-232017-02-01
exon 2
c.143A>T
p.(Lys48Ile)
K19I
Uncertain significance (VUS)To be validated
 2020-08-28 
exon 2
c.145T>G
p.(Tyr49Asp)
Y20D
PathogenicVALIDATED
 2003-11-21 
exon 2
c.145T>C
p.(Tyr49His)
Y20H
Likely pathogenicVALIDATED
 2002-10-25 
exon 2
c.146A>G
p.(Tyr49Cys)
Y20C
Likely pathogenicVALIDATED
 2012-10-232013-01-14
exon 2
c.151C>T
p.(His51Tyr)
H22Y
PathogenicVALIDATED
 2002-01-25 
exon 2
c.152A>G
p.(His51Arg)
H22R
Likely pathogenicVALIDATED
 2008-12-082008-12-15
exon 2
c.153C>G
p.(His51Gln)
H22Q
Likely pathogenicPROVISIONAL
 2004-02-10 
exon 2
c.160A>G
p.(Asn54Asp)
N25D
Uncertain significance (VUS)PROVISIONAL
 2011-09-02 
exon 2
c.168G>A
p.(Ser56=)
S27S
Likely benignVALIDATED
 2006-06-15 
exon 2
c.170T>G
p.(Ile57Ser)
I28S
Uncertain significance (VUS)VALIDATED
 2012-07-032012-07-11
exon 2
c.172T>G
p.(Cys58Gly)
C29G
PathogenicVALIDATED
 2013-08-162013-09-04
exon 2
c.172T>C
p.(Cys58Arg)
C29R
PathogenicVALIDATED
 2011-05-17 
exon 2
c.173G>T
p.(Cys58Phe)
C29F
PathogenicVALIDATED
 2002-02-12 
exon 2
c.173G>C
p.(Cys58Ser)
C29S
PathogenicVALIDATED
 2013-02-05 
exon 2
c.173G>A
p.(Cys58Tyr)
C29Y
PathogenicVALIDATED
 2006-03-09 
exon 2
c.174C>G
p.(Cys58Trp)
C29W
Likely pathogenicVALIDATED
 2017-08-182018-11-06
exon 2
c.175T>C
p.(Cys59Arg)
C30R
PathogenicVALIDATED
 2002-01-02 
exon 2
c.176G>T
p.(Cys59Phe)
C30F
PathogenicVALIDATED
 2007-05-21 
exon 2
c.176G>C
p.(Cys59Ser)
C30S
PathogenicVALIDATED
 2002-01-03 
exon 2
c.176G>A
p.(Cys59Tyr)
C30Y
PathogenicVALIDATED
 2004-10-05 
exon 2
c.184T>G
p.(Cys62Gly)
C33G
PathogenicVALIDATED
 2002-01-08 
exon 2
c.185G>A
p.(Cys62Tyr)
C33Y
PathogenicVALIDATED
 2002-01-02 
intron 2
c.194-80C>T
p.?
c.194-80C>T
Likely benignVALIDATED
 2011-12-222011-12-29
intron 2
c.194-29G>A
p.?
c.194-29G>A
Likely benignVALIDATED
 2005-01-06 
intron 2
c.194-18_194-17del
p.?
c.194-18_-17delCT
Not classifiedTo be validated
 2006-01-092019-03-11
intron 2
c.194-15C>T
p.?
c.194-15C>T
Likely benignVALIDATED
 2004-12-07 
intron 2
c.194-14G>A
p.?
c.193-14G>A
PathogenicVALIDATED
 2003-02-122007-07-02
exon 3
c.194G>A
p.(Gly65Glu)
G36E
Likely pathogenicVALIDATED
 2002-11-18 
exon 3
c.197C>T
p.(Thr66Ile)
T37I
Likely pathogenicPROVISIONAL
 2003-04-23 
exon 3
c.200A>G
p.(Tyr67Cys)
Y38C
Likely pathogenicVALIDATED
 2002-02-12 
exon 3
c.200A>C
p.(Tyr67Ser)
Y38S
Likely pathogenicVALIDATED
 2009-11-022013-01-28
exon 3
c.204G>C
p.(Leu68Phe)
L39F
Likely pathogenicVALIDATED
 2005-02-28 
exon 3
c.211_213delGAC
p.(Asp71del)
D42DEL
PathogenicVALIDATED
 2003-05-16 
exon 3
c.213C>A
p.(Asp71Glu)
D42E
Likely pathogenicPROVISIONAL
 2014-09-22 
exon 3
c.214T>G
p.(Cys72Gly)
C43G
PathogenicVALIDATED
 2011-05-262011-05-27
exon 3
c.214T>C
p.(Cys72Arg)
C43R
PathogenicVALIDATED
 2002-10-31 
exon 3
c.215G>T
p.(Cys72Phe)
C43F
PathogenicVALIDATED
 2014-09-22 
exon 3
c.215G>C
p.(Cys72Ser)
C43S
PathogenicVALIDATED
 2005-05-09 
exon 3
c.215G>A
p.(Cys72Tyr)
C43Y
PathogenicVALIDATED
 2004-02-052021-03-25
exon 3
c.224C>T
p.(Pro75Leu)
P46L
Uncertain significance (VUS)VALIDATED
 2002-03-18 
exon 3
c.228G>A
p.(Gly76=)
G47G
Likely benignVALIDATED
 2006-03-09 
exon 3
c.231G>T
p.(Gln77His)
Q48H
Uncertain significance (VUS)To be validated
 2019-05-132023-05-05
exon 3
c.236C>A
p.(Thr79Lys)
T50K
Likely pathogenicVALIDATED
 2003-09-162008-01-21
exon 3
c.236C>T
p.(Thr79Met)
T50M
PathogenicVALIDATED
 2002-01-02 
exon 3
c.241T>G
p.(Cys81Gly)
C52G
Likely pathogenicTo be validated
 2019-11-082020-02-27
exon 3
c.241T>C
p.(Cys81Arg)
C52R
PathogenicVALIDATED
 2002-06-18 
exon 3
c.242G>T
p.(Cys81Phe)
C52F
PathogenicVALIDATED
 2002-01-02 
exon 3
c.242G>C
p.(Cys81Ser)
C52S
PathogenicVALIDATED
 2007-09-042013-02-05
exon 3
c.242G>A
p.(Cys81Tyr)
C52Y
PathogenicVALIDATED
 2006-03-09 
exon 3
c.243C>G
p.(Cys81Trp)
C52W
PathogenicVALIDATED
 2010-01-29 
exon 3
c.244A>G
p.(Arg82Gly)
R53G
Uncertain significance (VUS)PROVISIONAL
 2013-08-162013-09-04
exon 3
c.249G>A
p.(Glu83=)
E54E
Likely benignVALIDATED
 2005-07-26 
exon 3
c.250T>C
p.(Cys84Arg)
C55R
PathogenicVALIDATED
 2004-02-05 
exon 3
c.251G>C
p.(Cys84Ser)
C55S
PathogenicVALIDATED
 2002-01-03 
exon 3
c.251G>A
p.(Cys84Tyr)
C55Y
PathogenicVALIDATED
 2006-03-09 
exon 3
c.255G>C
p.(Glu85Asp)
E56D
Likely pathogenicVALIDATED
 2015-07-312016-12-26
exon 3
c.255_278del
p.(Ser86_Glu93del)
S57_E64del
Likely pathogenicVALIDATED
 2013-07-192016-03-21
exon 3
c.259G>A
p.(Gly87Ser)
G58S
Likely pathogenicPROVISIONAL
 2013-02-052017-08-11
exon 3
c.260G>T
p.(Gly87Val)
G58V
Likely pathogenicTo be validated
 2019-11-082023-05-05
exon 3
c.262T>C
p.(Ser88Pro)
S59P
Likely pathogenicVALIDATED
 2009-10-172015-07-22
exon 3
c.265T>C
p.(Phe89Leu)
F60L(264C>G)
PathogenicVALIDATED
 2003-05-072007-02-13
exon 3
c.265T>G
p.(Phe89Val)
F60V
Likely pathogenicVALIDATED
 2006-01-23 
exon 3
c.266T>C
p.(Phe89Ser)
F60S
Likely pathogenicVALIDATED
 2006-05-122017-08-11
exon 3
c.267C>A
p.(Phe89Leu)
F60L(267A>G)
PathogenicVALIDATED
 2005-12-122007-07-03
exon 3
c.268A>C
p.(Thr90Pro)
T61P
Not classifiedTo be validated
 2016-12-302017-04-24
exon 3
c.269C>T
p.(Thr90Ile)
T61I
Uncertain significance (VUS)VALIDATED
 2004-08-05 
exon 3
c.269C>A
p.(Thr90Asn)
T61N
Likely pathogenicVALIDATED
 2008-08-052009-04-28
exon 3
c.281A>T
p.(Asn94Ile)
N65I
PathogenicVALIDATED
 2003-04-23 
exon 3
c.282C>G
p.(Asn94Lys)
N65K
Likely pathogenicVALIDATED
 2015-07-202017-08-11
exon 3
c.283C>T
p.(His95Tyr)
H66Y
Likely pathogenicPROVISIONAL
 2008-12-222017-08-11
exon 3
c.284A>T
p.(His95Leu)
H66L
Likely pathogenicPROVISIONAL
 2010-02-092010-02-09
exon 3
c.284A>C
p.(His95Pro)
H66P
Likely pathogenicPROVISIONAL
 2013-08-302017-08-11
exon 3
c.287T>C
p.(Leu96Pro)
L67P
Likely pathogenicVALIDATED
 2002-06-25 
exon 3
c.293_295del
p.(His98_Cys99delinsArg)
H69fs
Likely pathogenicVALIDATED
 2005-01-112007-02-13
exon 3
c.295T>G
p.(Cys99Gly)
C70G
PathogenicVALIDATED
 2004-10-25 
exon 3
c.295T>C
p.(Cys99Arg)
C70R
PathogenicVALIDATED
 2002-02-12 
exon 3
c.295T>A
p.(Cys99Ser)
C70S
PathogenicVALIDATED
 2002-12-112008-08-02
exon 3
c.296G>A
p.(Cys99Tyr)
C70Y
PathogenicVALIDATED
 2002-03-18 
exon 3
c.304T>C
p.(Cys102Arg)
C73R
Likely pathogenicVALIDATED
 2002-09-21 
exon 3
c.305G>A
p.(Cys102Tyr)
C73Y
Likely pathogenicTo be validated
 2019-11-08 
exon 3
c.306C>G
p.(Cys102Trp)
C73W
Likely pathogenicVALIDATED
 2003-10-20 
exon 3
c.308C>G
p.(Ser103Cys)
S74C
Likely pathogenicVALIDATED
 2007-05-21 
exon 3
c.314G>A
p.(Cys105Tyr)
C105Y
Likely pathogenicVALIDATED
 2017-08-182020-02-27
intron 3
c.323-32A>G
p.?
323-32A>G
Likely benignVALIDATED
 2007-01-06 
exon 4
c.331C>A
p.(Gln111Lys)
Q82K
Uncertain significance (VUS)VALIDATED
2010-07-272010-07-30
exon 4
c.332A>G
p.(Gln111Arg)
p.Q111R
Likely pathogenicTo be validated
 2023-02-09 
exon 4
c.334G>T
p.(Val112Leu)
V83L
Likely pathogenicPROVISIONAL
2009-12-192010-07-30
exon 4
c.334G>A
p.(Val112Met)
V83M
Likely pathogenicPROVISIONAL
 2012-07-032012-07-11
exon 4
c.343T>C
p.(Ser115Pro)
S86P
Likely pathogenicVALIDATED
 2002-01-14 
exon 4
c.347_349delCTT
p.(Ser116del)
S116del
Not classifiedTo be validated
 2021-04-09 
exon 4
c.349T>G
p.(Cys117Gly)
C88G
Likely pathogenicTo be validated
 2021-08-022022-09-27
exon 4
c.349T>C
p.(Cys117Arg)
C88R
PathogenicVALIDATED
 2002-01-02 
exon 4
c.350_351delinsCA
p.(Cys117Ser)
C88S
Likely pathogenicVALIDATED
 2011-08-022013-02-04
exon 4
c.350G>A
p.(Cys117Tyr)
C88Y
PathogenicVALIDATED
 2002-01-02 
exon 4
c.352A>G
p.(Thr118Ala)
T89A
Uncertain significance (VUS)PROVISIONAL
 2010-04-06 
exon 4
c.361C>T
p.(Arg121Trp)
R92W
Likely pathogenicPROVISIONAL
 2006-04-052015-11-27
exon 4
c.362_363insTGCAAGACACAG
p.(Arg121_Asp122insAlaArgHisArg)
R121_D122insARHR
Likely pathogenicTo be validated
 2021-05-272021-05-27
exon 4
c.362G>C
p.(Arg121Pro)
R92P
Likely pathogenicVALIDATED
 2002-01-03 
exon 4
c.362G>A
p.(Arg121Gln)
R92Q
Uncertain significance (VUS)VALIDATED
 2002-01-25 
exon 4
c.364G>C
p.(Asp122His)
D93H
Likely pathogenicPROVISIONAL
 2013-02-05 
exon 4
c.366C>G
p.(Asp122Glu)
D93E
Uncertain significance (VUS)VALIDATED
 2013-05-062013-05-07
exon 4
c.369C>T
p.(Thr123=)
T94T
Likely benignVALIDATED
 2004-12-10 
exon 4
c.370G>A
p.(Val124Met)
V95M
Likely pathogenicVALIDATED
 2006-04-13 
exon 4
c.373T>C
p.(Cys125Arg)
C96R
Likely pathogenicVALIDATED
 2017-08-16 
exon 4
c.374G>T
p.(Cys125Phe)
C96F
PathogenicVALIDATED
 2012-10-30 
exon 4
c.374G>A
p.(Cys125Tyr)
C96Y
PathogenicVALIDATED
 2002-06-25 
exon 4
c.375T>G
p.(Cys125Trp)
C96W
PathogenicVALIDATED
 2014-09-26 
exon 4
c.379T>C
p.(Cys127Arg)
C98R
PathogenicVALIDATED
 2013-02-05 
exon 4
c.380G>T
p.(Cys127Phe)
C98F
Likely pathogenicTo be validated
 2020-08-28 
exon 4
c.380G>A
p.(Cys127Tyr)
C98Y
PathogenicVALIDATED
 2003-02-14 
exon 4
c.390C>G
p.(Asn130Lys)
N101K
Likely pathogenicPROVISIONAL
 2011-09-022011-09-02
exon 4
c.394_399del
p.(Tyr132_Arg133del)
Y103_R104DEL
Likely pathogenicVALIDATED
 2010-03-182012-02-09
exon 4
c.397C>T
p.(Arg133Trp)
R104W
Likely pathogenicVALIDATED
 2015-03-11 
exon 4
c.398G>A
p.(Arg133Gln)
R104Q
Uncertain significance (VUS)VALIDATED
 2004-10-25 
exon 4
c.401A>C
p.(His134Pro)
H105P
Uncertain significance (VUS)PROVISIONAL
 2007-07-09 
exon 4
c.404A>G
p.(Tyr135Cys)
Y106C
Likely pathogenicPROVISIONAL
 2013-08-27 
exon 4
c.413A>C
p.(Glu138Ala)
E109A
Likely benignPROVISIONAL
 2008-02-252008-02-28
exon 4
c.421T>A
p.(Phe141Ile)
F112I
PathogenicVALIDATED
 2002-06-25 
exon 4
c.421T>C
p.(Phe141Leu)
F112L
Likely pathogenicVALIDATED
 2013-02-05 
exon 4
c.422T>G
p.(Phe141Cys)
F112C
Likely pathogenicVALIDATED
 2010-08-312013-02-06
exon 4
c.422T>C
p.(Phe141Ser)
F112S
Likely pathogenicVALIDATED
 2012-06-15 
exon 4
c.427T>C
p.(Cys143Arg)
C114R
Likely pathogenicVALIDATED
 2017-08-182019-06-18
exon 4
c.429C>G
p.(Cys143Trp)
C114W
Likely pathogenicVALIDATED
 2013-07-032014-01-06
exon 4
c.434A>G
p.(Asn145Ser)
N116S
Uncertain significance (VUS)VALIDATED
 2008-08-052008-09-08
exon 4
c.459C>T
p.(Thr153=)
T124T
Likely benignVALIDATED
 2013-01-242013-05-07
exon 4
c.460G>A
p.(Val154Met)
V125M
Likely pathogenicTo be validated
 2019-07-11 
exon 4
c.463C>T
p.(His155Tyr)
H126T
Not classifiedTo be validated
 2016-10-132018-10-02
intron 4
c.472+1G>A
p.(Cys158delinsTyrGluArgSerSerProGluAlaLysProSerPr
c.472+1G>A
Likely pathogenicVALIDATED
 2008-04-112020-08-31
intron 4
c.472+6C>T
p.?
c.472+6C>T
Likely benignVALIDATED
 2006-04-13 
intron 4
c.472+17T>C
p.?
c.472+17T>C
Likely benignVALIDATED
 2013-05-06 
intron 4
c.472+64C>T
p.?
c.472+64C>T
Likely benignVALIDATED
 2006-04-05 
intron 4
c.473-72G>A
p.?
c.473-72G>A
Likely benignVALIDATED
 2004-03-11 
intron 4
c.473-33T>C
p.?
c.473-33C>T
Likely benignVALIDATED
 2003-04-252017-08-18
intron 4
c.473-16G>A
p.?
c.473-16 G>A
Likely benignVALIDATED
 2004-01-09 
exon 5
c.482A>G
p.(Lys161Arg)
K132R
Uncertain significance (VUS)To be validated
 2019-11-082023-05-05
exon 5
c.493G>A
p.(Val165Met)
V136M
Uncertain significance (VUS)To be validated
 2019-07-11 
intron 5
c.552-89A>T
p.?
c.552-89A>T
Likely benignVALIDATED
 2005-05-19 
exon 6
c.558G>A
p.(Lys186=)
K157K
Likely benignVALIDATED
 2006-03-09 
exon 6
c.586_612del27
p.(Leu196_Gly204del)
L167_G175del
Likely pathogenicVALIDATED
 2006-03-092017-08-11
exon 6
c.596T>A
p.(Ile199Asn)
I170N
Likely pathogenicVALIDATED
 2003-08-182017-04-27
exon 6
c.596T>C
p.(Ile199Thr)
I170T
Not classifiedTo be validated
 2017-07-132018-10-02
exon 6
c.605T>A
p.(Val202Asp)
V173D
Likely pathogenicPROVISIONAL
 2008-01-11 
exon 6
c.605T>G
p.(Val202Gly)
V173G
Not classifiedTo be validated
 2020-01-282023-05-05
exon 6
c.610G>T
p.(Gly204Cys)
G175C
Likely pathogenicTo be validated
 2019-05-132023-05-05
intron 6
c.625+10A>G
p.?
c.625+10A/G
Likely benignVALIDATED
 2003-07-142008-05-09
intron 6
c.625+53C>T
p.?
c.625+53C>T
Likely benignVALIDATED
 2014-10-032015-12-07
intron 6
c.626-33C>T
p.?
c.626-33
Likely benignVALIDATED
 2012-02-21 
intron 6
c.626-32G>T
p.?
c.626-32G>T
Likely benignVALIDATED
 2010-09-29 
exon 7
c.677C>G
p.(Ser226Cys)
S197C
Uncertain significance (VUS)VALIDATED
 2011-10-132013-02-06
exon 7
c.678C>G
p.(Ser226=)
S197S
Likely benignVALIDATED
 2004-11-26 
intron 7
c.740-9T>C
p.?
c.218-9T>C
Likely benignVALIDATED
 2003-08-052007-07-02
intron 8
c.768+42delA
p.?
c.768+42delA
Likely benignVALIDATED
 2013-06-06 
intron 8
c.769-23T>C
p.?
c.769-23T>C
Likely benignVALIDATED
 2010-07-282010-08-03
intron 8
c.769-5T>C
p.?
c.769-5T>C
Likely benignVALIDATED
 2017-09-05 
exon 9
c.869G>T
p.(Ser290Ile)
S261I
Not classifiedTo be validated
 2020-01-282023-05-05
exon 9
c.878_895del
p.(Phe293_Thr298del)
F264_T2269del
Not classifiedTo be validated
 2021-01-112023-05-05
exon 9
c.902C>A
p.(Pro301His)
P272H
Uncertain significance (VUS)To be validated
 2021-10-072023-05-05
exon 9
c.935G>A
p.(Arg312Lys)
R283K
Not classifiedTo be validated
 2017-02-222018-10-02
exon 9
c.988G>A
p.(Ala330Thr)
A330T
Not classifiedTo be validated
 2020-06-02 
exon 9
c.1049G>T
p.(Ser350Ile)
S321I
Uncertain significance (VUS)To be validated
 2019-07-11 
exon 10
c.1075C>T
p.(Leu359=)
L330L
Likely benignVALIDATED
 2011-06-10 
exon 10
c.1080C>G
p.(Tyr360*)
Y331X
Likely pathogenicPROVISIONAL
 2009-03-302009-04-03
exon 10
c.1110C>T
p.(Arg370=)
R341R
Likely benignVALIDATED
 2013-05-062013-05-07
exon 10
c.1181G>A
p.(Arg394His)
R365H
Not classifiedTo be validated
 2020-06-022023-05-05
exon 10
c.1281C>A
p.(Asp427Glu)
D398E
Uncertain significance (VUS)To be validated
 2022-06-292023-05-05
exon 10
c.1321C>A
p.(Leu441Ile)
L412I
Not classifiedTo be validated
 2020-06-022023-05-05
exon 10
c.1343C>T
p.(Pro448Leu)
P419L
Uncertain significance (VUS)To be validated
 2020-04-022023-05-05
3UT
c.*64T>C
p.?
c.*64T>C
Not classifiedTo be validated
 2020-01-282020-08-31