TNFRSF1A (NM_001065.3) sequence variants

Editor(s): Ivona AKSENTIJEVICH   

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Total current number of sequence variants for TNFRSF1A : 167

*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
-
-609 G/T
Not classifiedTo be validated
 2003-04-23
5 flanking
c.-581A>G
-
-580 A/G
Not classifiedTo be validated
 2003-08-04
5 flanking
c.-559G>A
-
c.-559G>A
Not classifiedTo be validated
 2011-06-10
5 flanking
c.-508A>G
-
-508 A/G
Not classifiedTo be validated
 2003-07-14
5 flanking
c.-383A>C
-
-383 A/C
Not classifiedTo be validated
 2003-04-25
exon 1
c.15C>T
p.(=)
c.15C>T
Likely benignVALIDATED
 2017-08-21
exon 1
c.36A>G
p.(=)
c.36 A>G
BenignVALIDATED
 2003-04-25
intron 1
c.39+97G>A
-
c.39+97G>A
Likely benignVALIDATED
 2011-06-10
intron 1
c.39+1899(GT)17(GA)10
-
c.39+1899(GT)n(GA)n
Not classifiedTo be validated
 2003-07-14
intron 1
c.40-3367C>T
-
c.40-3367C>T
Likely benignVALIDATED
 2012-06-01
intron 1
c.40-981C>T
-
c.40-981C>T
Likely benignVALIDATED
 2011-06-10
exon 2
c.59T>C
p.(Val20Ala)
c.59T>C
Uncertain significance (VUS)PROVISIONAL
 2011-08-24
exon 2
c.81T>C
p.(=)
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
 2017-01-23
exon 2
c.145T>C
p.(Tyr49His)
Y20H
Likely pathogenicVALIDATED
 2002-10-25
exon 2
c.145T>G
p.(Tyr49Asp)
Y20D
PathogenicVALIDATED
 2003-11-21
exon 2
c.146A>G
p.(Tyr49Cys)
Y20C
Likely pathogenicVALIDATED
 2012-10-23
exon 2
c.151C>T
p.(His51Tyr)
H22Y
PathogenicVALIDATED
 2002-01-25
exon 2
c.152A>G
p.(His51Arg)
H22R
Likely pathogenicVALIDATED
 2008-12-08
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.(=)
S27S
Likely benignVALIDATED
 2006-06-15
exon 2
c.170T>G
p.(Ile57Ser)
I28S
Uncertain significance (VUS)VALIDATED
 2012-07-03
exon 2
c.172T>C
p.(Cys58Arg)
C29R
PathogenicVALIDATED
 2011-05-17
exon 2
c.172T>G
p.(Cys58Gly)
C29G
PathogenicVALIDATED
 2013-08-16
exon 2
c.173G>T
p.(Cys58Phe)
C29F
PathogenicVALIDATED
 2002-02-12
exon 2
c.173G>A
p.(Cys58Tyr)
C29Y
PathogenicVALIDATED
 2006-03-09
exon 2
c.173G>C
p.(Cys58Ser)
C29S
PathogenicVALIDATED
 2013-02-05
exon 2
c.174C>G
p.(Cys58Trp)
C29W
Likely pathogenicVALIDATED
 2017-08-18
exon 2
c.175T>C
p.(Cys59Arg)
C30R
PathogenicVALIDATED
 2002-01-02
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.176G>T
p.(Cys59Phe)
C30F
PathogenicVALIDATED
 2007-05-21
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
-
c.194-80C>T
Likely benignVALIDATED
 2011-12-22
intron 2
c.194-29G>A
-
c.194-29G>A
Likely benignVALIDATED
 2005-01-06
intron 2
c.194-18_194-17del
-
c.194-18_-17delCT
Not classifiedTo be validated
 2006-01-09
intron 2
c.194-15C>T
-
c.194-15C>T
Likely benignVALIDATED
 2004-12-07
intron 2
c.194-14G>A
-
c.193-14G>A
PathogenicVALIDATED
 2003-02-12
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
 2009-11-02
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>C
p.(Cys72Arg)
C43R
PathogenicVALIDATED
 2002-10-31
exon 3
c.214T>G
p.(Cys72Gly)
C43G
PathogenicVALIDATED
 2011-05-26
exon 3
c.215G>A
p.(Cys72Tyr)
C43Y
PathogenicVALIDATED
 2004-02-05
exon 3
c.215G>C
p.(Cys72Ser)
C43S
PathogenicVALIDATED
 2005-05-09
exon 3
c.215G>T
p.(Cys72Phe)
C43F
PathogenicVALIDATED
 2014-09-22
exon 3
c.224C>T
p.(Pro75Leu)
P46L
Uncertain significance (VUS)VALIDATED
 2002-03-18
exon 3
c.228G>A
p.(=)
G47G
Likely benignVALIDATED
 2006-03-09
exon 3
c.231G>T
p.(Gln77His)
Q77H
Uncertain significance (VUS)To be validated
 2019-05-13
exon 3
c.236C>T
p.(Thr79Met)
T50M
PathogenicVALIDATED
 2002-01-02
exon 3
c.236C>A
p.(Thr79Lys)
T50K
Likely pathogenicVALIDATED
 2003-09-16
exon 3
c.241T>C
p.(Cys81Arg)
C52R
PathogenicVALIDATED
 2002-06-18
exon 3
c.241T>G
p.Cys81Gly
C52G
Likely pathogenicTo be validated
 2019-11-08
exon 3
c.242G>T
p.(Cys81Phe)
C52F
PathogenicVALIDATED
 2002-01-02
exon 3
c.242G>A
p.(Cys81Tyr)
C52Y
PathogenicVALIDATED
 2006-03-09
exon 3
c.242G>C
p.(Cys81Ser)
C52S
PathogenicVALIDATED
 2007-09-04
exon 3
c.243C>G
p.(Cys81Trp)
C52W
PathogenicVALIDATED
 2010-01-29
exon 3
c.244A>G
p.(Arg82Gly)
R53G
Uncertain significance (VUS)PROVISIONAL
 2013-08-16
exon 3
c.249G>A
p.(=)
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.255_278del
p.(Ser86_Glu93del)
S57_E64del
Likely pathogenicVALIDATED
 2013-07-19
exon 3
c.255G>C
p.(Glu85Asp)
E56D
Likely pathogenicVALIDATED
 2015-07-31
exon 3
c.259G>A
p.(Gly87Ser)
G58S
Likely pathogenicPROVISIONAL
 2013-02-05
exon 3
c.260G>T
p.(Gly87Val)
G87V
Likely pathogenicTo be validated
 2019-11-08
exon 3
c.262T>C
p.(Ser88Pro)
S59P
Likely pathogenicVALIDATED
 2009-10-17
exon 3
c.265T>C
p.(Phe89Leu)
F60L(264C>G)
PathogenicVALIDATED
 2003-05-07
exon 3
c.265T>G
p.(Phe89Val)
F60V
Likely pathogenicVALIDATED
 2006-01-23
exon 3
c.266T>C
p.(Phe89Ser)
F60S
Likely pathogenicVALIDATED
 2006-05-12
exon 3
c.267C>A
p.(Phe89Leu)
F60L(267A>G)
PathogenicVALIDATED
 2005-12-12
exon 3
c.268A>C
p.(Thr90Pro)
T61P
Not classifiedTo be validated
 2016-12-30
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
 2008-08-05
exon 3
c.281A>T
p.(Asn94Ile)
N65I
PathogenicVALIDATED
 2003-04-23
exon 3
c.282C>G
p.(Asn94Lys)
N65K
Likely pathogenicVALIDATED
 2015-07-20
exon 3
c.283C>T
p.(His95Tyr)
H66Y
Likely pathogenicPROVISIONAL
 2008-12-22
exon 3
c.284A>T
p.(His95Leu)
H66L
Likely pathogenicPROVISIONAL
 2010-02-09
exon 3
c.284A>C
p.(His95Pro)
H66P
Likely pathogenicPROVISIONAL
 2013-08-30
exon 3
c.287T>C
p.(Leu96Pro)
L67P
Likely pathogenicVALIDATED
 2002-06-25
exon 3
c.293_295del
p.(His98_Cys99delinsArg)
H69fs
Likely pathogenicVALIDATED
 2005-01-11
exon 3
c.295T>C
p.(Cys99Arg)
C70R
PathogenicVALIDATED
 2002-02-12
exon 3
c.295T>A
p.(Cys99Ser)
C70S
PathogenicVALIDATED
 2002-12-11
exon 3
c.295T>G
p.(Cys99Gly)
C70G
PathogenicVALIDATED
 2004-10-25
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
 2017-08-18
intron 3
c.323-32A>G
-
323-32A>G
Likely benignVALIDATED
 2007-01-06
exon 4
c.331C>A
p.(Gln111Lys)
Q82K
Uncertain significance (VUS)VALIDATED
2010-07-27
exon 4
c.334G>T
p.(Val112Leu)
V83L
Likely pathogenicPROVISIONAL
2009-12-19
exon 4
c.334G>A
p.(Val112Met)
V83M
Likely pathogenicPROVISIONAL
 2012-07-03
exon 4
c.343T>C
p.(Ser115Pro)
S86P
Likely pathogenicVALIDATED
 2002-01-14
exon 4
c.349T>C
p.(Cys117Arg)
C88R
PathogenicVALIDATED
 2002-01-02
exon 4
c.350G>A
p.(Cys117Tyr)
C88Y
PathogenicVALIDATED
 2002-01-02
exon 4
c.350_351delinsCA
p.(Cys117Ser)
C88S
Likely pathogenicVALIDATED
 2011-08-02
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
 2006-04-05
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
 2013-05-06
exon 4
c.369C>T
p.(=)
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>A
p.(Cys125Tyr)
C96Y
PathogenicVALIDATED
 2002-06-25
exon 4
c.374G>T
p.(Cys125Phe)
C96F
PathogenicVALIDATED
 2012-10-30
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>A
p.(Cys127Tyr)
C98Y
PathogenicVALIDATED
 2003-02-14
exon 4
c.390C>G
p.(Asn130Lys)
N101K
Likely pathogenicPROVISIONAL
 2011-09-02
exon 4
c.394_399del
p.(Tyr132_Arg133del)
Y103_R104DEL
Likely pathogenicVALIDATED
 2010-03-18
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
 2008-02-25
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
 2010-08-31
exon 4
c.422T>C
p.(Phe141Ser)
F112S
Likely pathogenicVALIDATED
 2012-06-15
exon 4
c.427T>C
p.(Cys143Arg)
C114R
Likely pathogenicVALIDATED
 2017-08-18
exon 4
c.429C>G
p.(Cys143Trp)
C114W
Likely pathogenicVALIDATED
 2013-07-03
exon 4
c.434A>G
p.(Asn145Ser)
N116S
Uncertain significance (VUS)VALIDATED
 2008-08-05
exon 4
c.459C>T
p.(=)
T124T
Likely benignVALIDATED
 2013-01-24
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
 2016-10-13
intron 4
c.472+1G>A
p.(Cys158delinsYERSSPEAKPSPHPRG)
c.472+1G>A
Likely pathogenicVALIDATED
 2008-04-11
intron 4
c.472+6C>T
-
c.472+6C>T
Likely benignVALIDATED
 2006-04-13
intron 4
c.472+17T>C
-
c.472+17T>C
Likely benignVALIDATED
 2013-05-06
intron 4
c.472+64C>T
-
c.472+64C>T
Likely benignVALIDATED
 2006-04-05
intron 4
c.473-72G>A
-
c.473-72G>A
Likely benignVALIDATED
 2004-03-11
intron 4
c.473-33T>C
-
c.473-33C>T
Likely benignVALIDATED
 2003-04-25
intron 4
c.473-16G>A
-
c.473-16 G>A
Likely benignVALIDATED
 2004-01-09
exon 5
c.482A>G
p.(Lys161Arg)
K161R
Uncertain significance (VUS)To be validated
 2019-11-08
exon 5
c.493G>A
p.(Val165Met)
V136M
Uncertain significance (VUS)To be validated
 2019-07-11
intron 5
c.552-89A>T
-
c.552-89A>T
Likely benignVALIDATED
 2005-05-19
exon 6
c.558G>A
p.(=)
K157K
Likely benignVALIDATED
 2006-03-09
exon 6
c.586_612del27
p.(Leu196_Gly204del)
L167_G175del
Likely pathogenicVALIDATED
 2006-03-09
exon 6
c.596T>A
p.(Ile199Asn)
I170N
Likely pathogenicVALIDATED
 2003-08-18
exon 6
c.596T>C
p.(Ile199Thr)
I170T
Not classifiedTo be validated
 2017-07-13
exon 6
c.605T>A
p.(Val202Asp)
V173D
Likely pathogenicPROVISIONAL
 2008-01-11
exon 6
c.610G>T
p.(Gly204Cys)
G204C
Likely pathogenicTo be validated
 2019-05-13
intron 6
c.625+10A>G
-
c.625+10A/G
Likely benignVALIDATED
 2003-07-14
intron 6
c.625+53C>T
-
c.625+53C>T
Likely benignVALIDATED
 2014-10-03
intron 6
c.626-33C>T
-
c.626-33
Likely benignVALIDATED
 2012-02-21
intron 6
c.626-32G>T
-
c.626-32G>T
Likely benignVALIDATED
 2010-09-29
exon 7
c.677C>G
p.(Ser226Cys)
S197C
Uncertain significance (VUS)VALIDATED
 2011-10-13
exon 7
c.678C>G
p.(=)
S197S
Likely benignVALIDATED
 2004-11-26
intron 7
c.740-9T>C
-
c.218-9T>C
Likely benignVALIDATED
 2003-08-05
intron 8
c.768+42delA
-
c.768+42delA
Likely benignVALIDATED
 2013-06-06
intron 8
c.769-23T>C
-
c.769-23T>C
Likely benignVALIDATED
 2010-07-28
intron 8
c.769-5T>C
-
c.769-5T>C
Likely benignVALIDATED
 2017-09-05
exon 9
c.935G>A
p.(Arg312Lys)
R283K
Not classifiedTo be validated
 2017-02-22
exon 9
c.1049G>T
p.(Ser350Ile)
S321I
Uncertain significance (VUS)To be validated
 2019-07-11
exon 10
c.1075C>T
p.(=)
L330L
Likely benignVALIDATED
 2011-06-10
exon 10
c.1080C>G
p.(Tyr360*)
Y331X
Likely pathogenicPROVISIONAL
 2009-03-30
exon 10
c.1110C>T
p.(=)
R341R
Likely benignVALIDATED
 2013-05-06