TNFRSF1A (NM_001065.3) sequence variants

Editor(s): Ivona AKSENTIJEVICH   

How to submit a novel simple allele ?   How to submit a novel complex allele ?

Total current number of sequence variants for TNFRSF1A : 158

*This classification is proposed by the INSAID study group.
A new workflow for classification of genetic variants pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic AutoInflammatory Diseases (INSAID). Marielle E. Van Gijn, Isabella Ceccherini, Yael Shinar Ellen C. Carbo, Mariska Slofstra, Juan I. Arostegui, Guillaume Sarrabay, Dorota Rowczenio, Ebun Omoyinmi, Banu Peynircioglu, Hal M. Hoffman, Florian Milhavet, Morris A. Swertz, Isabelle Touitou.
J Med Genet. 2018 Mar 29.

HGVS sequence name
HGVS protein name
Classification *
Status *
Simple variant
Complex alleles
5 flankingc.-610G>T-Not classifiedNot classified
 2003-04-23
5 flankingc.-581A>G-Not classifiedNot classified
 2003-08-04
5 flankingc.-559G>A-Not classifiedNot classified
 2011-06-10
5UTc.-508A>G-Not classifiedNot classified
 2003-07-14
5 flankingc.-383A>C-Not classifiedNot classified
 2003-04-25
exon 1c.15C>Tp.=Likely benignVALIDATED
 2017-08-21
exon 1c.36A>Gp.(=)BenignVALIDATED
 2003-04-25
intron 1c.39+97G>A-Likely benignVALIDATED
 2011-06-10
intron 1c.39+1899(GT)17(GA)10-Not classifiedNot classified
 2003-07-14
intron 1c.40-3367C>T-Likely benignVALIDATED
 2012-06-01
intron 1c.40-981C>T-Likely benignVALIDATED
 2011-06-10
exon 2c.59T>Cp.Val20AlaUncertain significance (VOUS)PROVISIONAL
 2011-08-24
exon 2c.81T>Cp.(=)Likely benignVALIDATED
 2017-08-18
exon 2c.123T>Gp.Asp41GluUncertain significance (VOUS)VALIDATED
 2006-03-09
exon 2c.131G>Ap.Cys44TyrLikely pathogenicVALIDATED
 2017-01-23
exon 2c.145T>Cp.Tyr49HisLikely pathogenicVALIDATED
 2002-10-25
exon 2c.145T>Gp.Tyr49AspPathogenicVALIDATED
 2003-11-21
exon 2c.146A>Gp.Tyr49CysLikely pathogenicVALIDATED
 2012-10-23
exon 2c.151C>Tp.His51TyrPathogenicVALIDATED
 2002-01-25
exon 2c.152A>Gp.His51ArgLikely pathogenicVALIDATED
 2008-12-08
exon 2c.153C>Gp.His51GlnLikely pathogenicPROVISIONAL
 2004-02-10
exon 2c.160A>Gp.Asn54AspUncertain significance (VOUS)PROVISIONAL
 2011-09-02
exon 2c.168G>Ap.(=)Likely benignVALIDATED
 2006-06-15
exon 2c.170T>Gp.Ile57SerUncertain significance (VOUS)VALIDATED
 2012-07-03
exon 2c.172T>Cp.Cys58ArgPathogenicVALIDATED
 2011-05-17
exon 2c.172T>Gp.Cys58GlyPathogenicVALIDATED
 2013-08-16
exon 2c.173G>Tp.Cys58PhePathogenicVALIDATED
 2002-02-12
exon 2c.173G>Ap.Cys58TyrPathogenicVALIDATED
 2006-03-09
exon 2c.173G>Cp.Cys58SerPathogenicVALIDATED
 2013-02-05
exon 3c.174C>Gp.Cys58TrpLikely pathogenicVALIDATED
 2017-08-18
exon 2c.175T>Cp.Cys59ArgPathogenicVALIDATED
 2002-01-02
exon 2c.176G>Cp.Cys59SerPathogenicVALIDATED
 2002-01-03
exon 2c.176G>Ap.Cys59TyrPathogenicVALIDATED
 2004-10-05
exon 2c.176G>Tp.Cys59PhePathogenicVALIDATED
 2007-05-21
exon 2c.184T>Gp.Cys62GlyPathogenicVALIDATED
 2002-01-08
exon 2c.185G>Ap.Cys62TyrPathogenicVALIDATED
 2002-01-02
intron 2c.194-80C>T-Likely benignVALIDATED
 2011-12-22
intron 2c.194-29G>A-Likely benignVALIDATED
 2005-01-06
intron 2c.194-18_-17del CT-Not classifiedNot classified
 2006-01-09
intron 2c.194-15C>T-Likely benignVALIDATED
 2004-12-07
intron 2c.194-14G>A-PathogenicVALIDATED
 2003-02-12
exon 3c.194G>Ap.Gly65GluLikely pathogenicVALIDATED
 2002-11-18
exon 3c.197C>Tp.Thr66IleLikely pathogenicPROVISIONAL
 2003-04-23
exon 3c.200A>Gp.Tyr67CysLikely pathogenicVALIDATED
 2002-02-12
exon 3c.200A>Cp.Tyr67SerLikely pathogenicVALIDATED
 2009-11-02
exon 3c.204G>Cp.Leu68PheLikely pathogenicVALIDATED
 2005-02-28
exon 3c.211_213delGACp.Asp71delPathogenicVALIDATED
 2003-05-16
exon 3c.213C>Ap.Asp71GluLikely pathogenicPROVISIONAL
 2014-09-22
exon 3c.214T>Cp.Cys72ArgPathogenicVALIDATED
 2002-10-31
exon 3c.214T>Gp.Cys72GlyPathogenicVALIDATED
 2011-05-26
exon 3c.215G>Ap.Cys72TyrPathogenicVALIDATED
 2004-02-05
exon 3c.215G>Cp.Cys72SerPathogenicVALIDATED
 2005-05-09
exon 3c.215G>Tp.Cys72PhePathogenicVALIDATED
 2014-09-22
exon 3c.224C>Tp.Pro75LeuUncertain significance (VOUS)VALIDATED
 2002-03-18
exon 3c.228G>Ap.(=)Likely benignVALIDATED
 2006-03-09
exon 3c.236C>Tp.Thr79MetPathogenicVALIDATED
 2002-01-02
exon 3c.236C>Ap.Thr79LysLikely pathogenicVALIDATED
 2003-09-16
exon 3c.241T>Cp.Cys81ArgPathogenicVALIDATED
 2002-06-18
exon 3c.242G>Tp.Cys81PhePathogenicVALIDATED
 2002-01-02
exon 3c.242G>Ap.Cys81TyrPathogenicVALIDATED
 2006-03-09
exon 3c.242G>Cp.Cys81SerPathogenicVALIDATED
 2007-09-04
exon 3c.243C>Gp.Cys81TrpPathogenicVALIDATED
 2010-01-29
exon 3c.244A>Gp.Arg82GlyUncertain significance (VOUS)PROVISIONAL
 2013-08-16
exon 3c.249G>Ap.(=)Likely benignVALIDATED
 2005-07-26
exon 3c.250T>Cp.Cys84ArgPathogenicVALIDATED
 2004-02-05
exon 3c.251G>Cp.Cys84SerPathogenicVALIDATED
 2002-01-03
exon 3c.251G>Ap.Cys84TyrPathogenicVALIDATED
 2006-03-09
exon 3c.255_278delp.Ser86_Glu93delLikely pathogenicVALIDATED
 2013-07-19
exon 3c.255G>Cp.Glu85AspLikely pathogenicVALIDATED
 2015-07-31
exon 3c.259G>Ap.Gly87SerLikely pathogenicPROVISIONAL
 2013-02-05
exon 3c.262T>Cp.Ser88ProLikely pathogenicVALIDATED
 2009-10-17
exon 3c.265T>Cp.Phe89LeuPathogenicVALIDATED
 2003-05-07
exon 3c.265T>Gp.Phe89ValLikely pathogenicVALIDATED
 2006-01-23
exon 3c.266T>Cp.Phe89SerLikely pathogenicVALIDATED
 2006-05-12
exon 3c.267C>Ap.Phe89LeuPathogenicVALIDATED
 2005-12-12
exon 3c.268A>Cp.Thr90ProNot classifiedNot classified
 2016-12-30
exon 3c.269C>Tp.Thr90IleLikely pathogenicPROVISIONAL
 2004-08-05
exon 3c.269C>Ap.Thr90AsnLikely pathogenicVALIDATED
 2008-08-05
exon 3c.281A>Tp.Asn94IlePathogenicVALIDATED
 2003-04-23
exon 3c.282C>Gp.Asn94LysLikely pathogenicVALIDATED
 2015-07-20
exon 3c.283C>Tp.His95TyrLikely pathogenicPROVISIONAL
 2008-12-22
exon 3c.284A>Tp.His95LeuLikely pathogenicPROVISIONAL
 2010-02-09
exon 3c.284A>Cp.His95ProLikely pathogenicPROVISIONAL
 2013-08-30
exon 3c.287T>Cp.Leu96ProLikely pathogenicVALIDATED
 2002-06-25
exon 3c.293_295delp.His98_Cys99delinsArgLikely pathogenicVALIDATED
 2005-01-11
exon 3c.295T>Cp.Cys99ArgPathogenicVALIDATED
 2002-02-12
exon 3c.295T>Ap.Cys99SerPathogenicVALIDATED
 2002-12-11
exon 3c.295T>Gp.Cys99GlyPathogenicVALIDATED
 2004-10-25
exon 3c.296G>Ap.Cys99TyrPathogenicVALIDATED
 2002-03-18
exon 3c.304T>Cp.Cys102ArgLikely pathogenicVALIDATED
 2002-09-21
exon 3c.306C>Gp.Cys102TrpLikely pathogenicVALIDATED
 2003-10-20
exon 3c.308C>Gp.Ser103CysLikely pathogenicVALIDATED
 2007-05-21
exon 3c.314G>Ap.Cys105Tyr Likely pathogenicVALIDATED
 2017-08-18
intron 3c.323-32A>G-Likely benignVALIDATED
 2007-01-06
exon 4c.331C>Ap.Gln111LysUncertain significance (VOUS)VALIDATED
2010-07-27
exon 4c.334G>Tp.Val112LeuLikely pathogenicPROVISIONAL
2009-12-19
exon 4c.334G>Ap.Val112MetLikely pathogenicPROVISIONAL
 2012-07-03
exon 4c.343T>Cp.Ser115ProLikely pathogenicVALIDATED
 2002-01-14
exon 4c.349T>Cp.Cys117ArgPathogenicVALIDATED
 2002-01-02
exon 4c.350G>Ap.Cys117TyrPathogenicVALIDATED
 2002-01-02
exon 4c.350_351delinsCAp.Cys117SerLikely pathogenicVALIDATED
 2011-08-02
exon 4c.352A>Gp.Thr118AlaUncertain significance (VOUS)PROVISIONAL
 2010-04-06
exon 4c.361C>Tp.Arg121TrpLikely pathogenicPROVISIONAL
 2006-04-05
exon 4c.362G>Cp.Arg121ProLikely pathogenicVALIDATED
 2002-01-03
exon 4c.362G>Ap.Arg121GlnUncertain significance (VOUS)VALIDATED
 2002-01-25
exon 4c.364G>Cp.Asp122HisLikely pathogenicPROVISIONAL
 2013-02-05
exon 4c.366C>Gp.Asp122GluUncertain significance (VOUS)VALIDATED
 2013-05-06
exon 4c.369C>Tp.(=)Likely benignVALIDATED
 2004-12-10
exon 4c.370G>Ap.Val124MetLikely pathogenicVALIDATED
 2006-04-13
exon 4c.373T>Cp.Cys125ArgLikely pathogenicVALIDATED
 2017-08-16
exon 4c.374G>Ap.Cys125TyrPathogenicVALIDATED
 2002-06-25
exon 4c.374G>Tp.Cys125PhePathogenicVALIDATED
 2012-10-30
exon 4c.375T>Gp.Cys125TrpPathogenicVALIDATED
 2014-09-26
exon 4c.379T>Cp.Cys127ArgPathogenicVALIDATED
 2013-02-05
exon 4c.380G>Ap.Cys127TyrPathogenicVALIDATED
 2003-02-14
exon 4c.390C>Gp.Asn130LysLikely pathogenicPROVISIONAL
 2011-09-02
exon 4c.394_399delp.Tyr132_Arg133delLikely pathogenicVALIDATED
 2010-03-18
exon 4c.397C>Tp.Arg133TrpLikely pathogenicVALIDATED
 2015-03-11
exon 4c.398G>Ap.Arg133GlnUncertain significance (VOUS)VALIDATED
 2004-10-25
exon 4c.401A>Cp.His134ProUncertain significance (VOUS)PROVISIONAL
 2007-07-09
exon 4c.404A>Gp.Tyr135CysLikely pathogenicPROVISIONAL
 2013-08-27
exon 4c.413A>Cp.Glu138AlaLikely benignPROVISIONAL
 2008-02-25
exon 4c.421T>Ap.Phe141IlePathogenicVALIDATED
 2002-06-25
exon 4c.421T>Cp.Phe141LeuLikely pathogenicVALIDATED
 2013-02-05
exon 4c.422T>Gp.Phe141CysLikely pathogenicVALIDATED
 2010-08-31
exon 4c.422T>Cp.Phe141SerLikely pathogenicVALIDATED
 2012-06-15
exon 4c.427T>Cp.Cys143Arg Likely pathogenicVALIDATED
 2017-08-18
exon 4c.429C>Gp.Cys143TrpLikely pathogenicVALIDATED
 2013-07-03
exon 4c.434A>Gp.Asn145SerUncertain significance (VOUS)VALIDATED
 2008-08-05
exon 4c.459C>Tp.(=)Likely benignVALIDATED
 2013-01-24
exon 4c.463C>Tp.His155TyrNot classifiedNot classified
 2016-10-13
intron 4c.472+1G>Ap.Cys158delinsYERSSPEAKPSPHPRGLikely pathogenicVALIDATED
 2008-04-11
intron 4c.472+6C>T-Likely benignVALIDATED
 2006-04-13
intron 4c.472+17T>C-Likely benignVALIDATED
 2013-05-06
intron 4c.472+64C>T-Likely benignVALIDATED
 2006-04-05
intron 4c.473-72G>A-Likely benignVALIDATED
 2004-03-11
intron 4c.473-33T>C-Likely benignVALIDATED
 2003-04-25
intron 4c.473-16G>A-Likely benignVALIDATED
 2004-01-09
intron 5c.552-89A>T-Likely benignVALIDATED
 2005-05-19
exon 6c.558G>Ap.(=)Likely benignVALIDATED
 2006-03-09
exon 6c.586_612del27p.Leu196_Gly204delLikely pathogenicVALIDATED
 2006-03-09
exon 6c.596T>Ap.Ile199AsnLikely pathogenicVALIDATED
 2003-08-18
exon 6c.596T>Cp.Ile199ThrNot classifiedNot classified
 2017-07-13
exon 6c.605T>Ap.Val202AspLikely pathogenicPROVISIONAL
 2008-01-11
intron 6c.625+10A>G-Likely benignVALIDATED
 2003-07-14
intron 6c.625+53C>T-Likely benignVALIDATED
 2014-10-03
intron 6c.626-33C>T-Likely benignVALIDATED
 2012-02-21
intron 6c.626-32G>T-Likely benignVALIDATED
 2010-09-29
exon 7c.677C>Gp.Ser226CysUncertain significance (VOUS)VALIDATED
 2011-10-13
exon 7c.678C>Gp.(=)Likely benignVALIDATED
 2004-11-26
intron 7c.740-9T>C-Likely benignVALIDATED
 2003-08-05
intron 8c.768+42delA-Likely benignVALIDATED
 2013-06-06
intron 8c.769-23T>C-Likely benignVALIDATED
 2010-07-28
intron 8c.769-5T>C-Likely benignVALIDATED
 2017-09-05
exon 9c.935G>Ap.Arg312LysNot classifiedNot classified
 2017-02-22
exon 10c.1075C>Tp.(=)Likely benignVALIDATED
 2011-06-10
exon 10c.1080C>Gp.Tyr360*Likely pathogenicPROVISIONAL
 2009-03-30
exon 10c.1110C>Tp.(=)Likely benignVALIDATED
 2013-05-06