TNFRSF1A (NM_001065.3) sequence variants

Editor(s): Ivona AKSENTIJEVICH   

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Total current number of sequence variants for TNFRSF1A : 160

*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
Classification *
Status *
Simple variant
Complex alleles
exon 3c.231G>Tp.(Gln77His)Uncertain significance (VOUS)To be validated
 2019-05-13
exon 6c.610G>Tp.(Gly204Cys)Likely pathogenicTo be validated
 2019-05-13
intron 8c.769-5T>C-Likely benignVALIDATED
 2017-09-05
exon 1c.15C>Tp.(=)Likely benignVALIDATED
 2017-08-21
exon 3c.314G>Ap.(Cys105Tyr )Likely pathogenicVALIDATED
 2017-08-18
exon 4c.427T>Cp.(Cys143Arg )Likely pathogenicVALIDATED
 2017-08-18
exon 2c.174C>Gp.(Cys58Trp)Likely pathogenicVALIDATED
 2017-08-18
exon 2c.81T>Cp.(=)Likely benignVALIDATED
 2017-08-18
exon 4c.373T>Cp.(Cys125Arg)Likely pathogenicVALIDATED
 2017-08-16
exon 6c.596T>Cp.(Ile199Thr)Not classifiedTo be validated
 2017-07-13
exon 9c.935G>Ap.(Arg312Lys)Not classifiedTo be validated
 2017-02-22
exon 2c.131G>Ap.(Cys44Tyr)Likely pathogenicVALIDATED
 2017-01-23
exon 3c.268A>Cp.(Thr90Pro)Not classifiedTo be validated
 2016-12-30
exon 4c.463C>Tp.(His155Tyr)Not classifiedTo be validated
 2016-10-13
exon 3c.255G>Cp.(Glu85Asp)Likely pathogenicVALIDATED
 2015-07-31
exon 3c.282C>Gp.(Asn94Lys)Likely pathogenicVALIDATED
 2015-07-20
exon 4c.397C>Tp.(Arg133Trp)Likely pathogenicVALIDATED
 2015-03-11
intron 6c.625+53C>T-Likely benignVALIDATED
 2014-10-03
exon 4c.375T>Gp.(Cys125Trp)PathogenicVALIDATED
 2014-09-26
exon 3c.215G>Tp.(Cys72Phe)PathogenicVALIDATED
 2014-09-22
exon 3c.213C>Ap.(Asp71Glu)Likely pathogenicPROVISIONAL
 2014-09-22
exon 3c.284A>Cp.(His95Pro)Likely pathogenicPROVISIONAL
 2013-08-30
exon 4c.404A>Gp.(Tyr135Cys)Likely pathogenicPROVISIONAL
 2013-08-27
exon 2c.172T>Gp.(Cys58Gly)PathogenicVALIDATED
 2013-08-16
exon 3c.244A>Gp.(Arg82Gly)Uncertain significance (VOUS)PROVISIONAL
 2013-08-16
exon 3c.255_278delp.(Ser86_Glu93del)Likely pathogenicVALIDATED
 2013-07-19
exon 4c.429C>Gp.(Cys143Trp)Likely pathogenicVALIDATED
 2013-07-03
intron 8c.768+42delA-Likely benignVALIDATED
 2013-06-06
exon 4c.366C>Gp.(Asp122Glu)Uncertain significance (VOUS)VALIDATED
 2013-05-06
intron 4c.472+17T>C-Likely benignVALIDATED
 2013-05-06
exon 10c.1110C>Tp.(=)Likely benignVALIDATED
 2013-05-06
exon 2c.173G>Cp.(Cys58Ser)PathogenicVALIDATED
 2013-02-05
exon 4c.379T>Cp.(Cys127Arg)PathogenicVALIDATED
 2013-02-05
exon 4c.421T>Cp.(Phe141Leu)Likely pathogenicVALIDATED
 2013-02-05
exon 3c.259G>Ap.(Gly87Ser)Likely pathogenicPROVISIONAL
 2013-02-05
exon 4c.364G>Cp.(Asp122His)Likely pathogenicPROVISIONAL
 2013-02-05
exon 4c.459C>Tp.(=)Likely benignVALIDATED
 2013-01-24
exon 4c.374G>Tp.(Cys125Phe)PathogenicVALIDATED
 2012-10-30
exon 2c.146A>Gp.(Tyr49Cys)Likely pathogenicVALIDATED
 2012-10-23
exon 4c.334G>Ap.(Val112Met)Likely pathogenicPROVISIONAL
 2012-07-03
exon 2c.170T>Gp.(Ile57Ser)Uncertain significance (VOUS)VALIDATED
 2012-07-03
exon 4c.422T>Cp.(Phe141Ser)Likely pathogenicVALIDATED
 2012-06-15
intron 1c.40-3367C>T-Likely benignVALIDATED
 2012-06-01
intron 6c.626-33C>T-Likely benignVALIDATED
 2012-02-21
intron 2c.194-80C>T-Likely benignVALIDATED
 2011-12-22
exon 7c.677C>Gp.(Ser226Cys)Uncertain significance (VOUS)VALIDATED
 2011-10-13
exon 4c.390C>Gp.(Asn130Lys)Likely pathogenicPROVISIONAL
 2011-09-02
exon 2c.160A>Gp.(Asn54Asp)Uncertain significance (VOUS)PROVISIONAL
 2011-09-02
exon 2c.59T>Cp.(Val20Ala)Uncertain significance (VOUS)PROVISIONAL
 2011-08-24
exon 4c.350_351delinsCAp.(Cys117Ser)Likely pathogenicVALIDATED
 2011-08-02
5 flankingc.-559G>A-Not classifiedTo be validated
 2011-06-10
intron 1c.39+97G>A-Likely benignVALIDATED
 2011-06-10
intron 1c.40-981C>T-Likely benignVALIDATED
 2011-06-10
exon 10c.1075C>Tp.(=)Likely benignVALIDATED
 2011-06-10
exon 3c.214T>Gp.(Cys72Gly)PathogenicVALIDATED
 2011-05-26
exon 2c.172T>Cp.(Cys58Arg)PathogenicVALIDATED
 2011-05-17
intron 6c.626-32G>T-Likely benignVALIDATED
 2010-09-29
exon 4c.422T>Gp.(Phe141Cys)Likely pathogenicVALIDATED
 2010-08-31
intron 8c.769-23T>C-Likely benignVALIDATED
 2010-07-28
exon 4c.331C>Ap.(Gln111Lys)Uncertain significance (VOUS)VALIDATED
2010-07-27
exon 4c.352A>Gp.(Thr118Ala)Uncertain significance (VOUS)PROVISIONAL
 2010-04-06
exon 4c.394_399delp.(Tyr132_Arg133del)Likely pathogenicVALIDATED
 2010-03-18
exon 3c.284A>Tp.(His95Leu)Likely pathogenicPROVISIONAL
 2010-02-09
exon 3c.243C>Gp.(Cys81Trp)PathogenicVALIDATED
 2010-01-29
exon 4c.334G>Tp.(Val112Leu)Likely pathogenicPROVISIONAL
2009-12-19
exon 3c.200A>Cp.(Tyr67Ser)Likely pathogenicVALIDATED
 2009-11-02
exon 3c.262T>Cp.(Ser88Pro)Likely pathogenicVALIDATED
 2009-10-17
exon 10c.1080C>Gp.(Tyr360*)Likely pathogenicPROVISIONAL
 2009-03-30
exon 3c.283C>Tp.(His95Tyr)Likely pathogenicPROVISIONAL
 2008-12-22
exon 2c.152A>Gp.(His51Arg)Likely pathogenicVALIDATED
 2008-12-08
exon 3c.269C>Ap.(Thr90Asn)Likely pathogenicVALIDATED
 2008-08-05
exon 4c.434A>Gp.(Asn145Ser)Uncertain significance (VOUS)VALIDATED
 2008-08-05
intron 4c.472+1G>Ap.(Cys158delinsYERSSPEAKPSPHPRG)Likely pathogenicVALIDATED
 2008-04-11
exon 4c.413A>Cp.(Glu138Ala)Likely benignPROVISIONAL
 2008-02-25
exon 6c.605T>Ap.(Val202Asp)Likely pathogenicPROVISIONAL
 2008-01-11
exon 3c.242G>Cp.(Cys81Ser)PathogenicVALIDATED
 2007-09-04
exon 4c.401A>Cp.(His134Pro)Uncertain significance (VOUS)PROVISIONAL
 2007-07-09
exon 2c.176G>Tp.(Cys59Phe)PathogenicVALIDATED
 2007-05-21
exon 3c.308C>Gp.(Ser103Cys)Likely pathogenicVALIDATED
 2007-05-21
intron 3c.323-32A>G-Likely benignVALIDATED
 2007-01-06
exon 2c.168G>Ap.(=)Likely benignVALIDATED
 2006-06-15
exon 3c.266T>Cp.(Phe89Ser)Likely pathogenicVALIDATED
 2006-05-12
intron 4c.472+6C>T-Likely benignVALIDATED
 2006-04-13
exon 4c.370G>Ap.(Val124Met)Likely pathogenicVALIDATED
 2006-04-13
intron 4c.472+64C>T-Likely benignVALIDATED
 2006-04-05
exon 4c.361C>Tp.(Arg121Trp)Likely pathogenicPROVISIONAL
 2006-04-05
exon 3c.242G>Ap.(Cys81Tyr)PathogenicVALIDATED
 2006-03-09
exon 3c.251G>Ap.(Cys84Tyr)PathogenicVALIDATED
 2006-03-09
exon 2c.123T>Gp.(Asp41Glu)Uncertain significance (VOUS)VALIDATED
 2006-03-09
exon 6c.586_612del27p.(Leu196_Gly204del)Likely pathogenicVALIDATED
 2006-03-09
exon 2c.173G>Ap.(Cys58Tyr)PathogenicVALIDATED
 2006-03-09
exon 3c.228G>Ap.(=)Likely benignVALIDATED
 2006-03-09
exon 6c.558G>Ap.(=)Likely benignVALIDATED
 2006-03-09
exon 3c.265T>Gp.(Phe89Val)Likely pathogenicVALIDATED
 2006-01-23
intron 2c.194-18_194-17del-Not classifiedTo be validated
 2006-01-09
exon 3c.267C>Ap.(Phe89Leu)PathogenicVALIDATED
 2005-12-12
exon 3c.249G>Ap.(=)Likely benignVALIDATED
 2005-07-26
intron 5c.552-89A>T-Likely benignVALIDATED
 2005-05-19
exon 3c.215G>Cp.(Cys72Ser)PathogenicVALIDATED
 2005-05-09
exon 3c.204G>Cp.(Leu68Phe)Likely pathogenicVALIDATED
 2005-02-28
exon 3c.293_295delp.(His98_Cys99delinsArg)Likely pathogenicVALIDATED
 2005-01-11
intron 2c.194-29G>A-Likely benignVALIDATED
 2005-01-06
exon 4c.369C>Tp.(=)Likely benignVALIDATED
 2004-12-10
intron 2c.194-15C>T-Likely benignVALIDATED
 2004-12-07
exon 7c.678C>Gp.(=)Likely benignVALIDATED
 2004-11-26
exon 3c.295T>Gp.(Cys99Gly)PathogenicVALIDATED
 2004-10-25
exon 4c.398G>Ap.(Arg133Gln)Uncertain significance (VOUS)VALIDATED
 2004-10-25
exon 2c.176G>Ap.(Cys59Tyr)PathogenicVALIDATED
 2004-10-05
exon 3c.269C>Tp.(Thr90Ile)Likely pathogenicPROVISIONAL
 2004-08-05
intron 4c.473-72G>A-Likely benignVALIDATED
 2004-03-11
exon 2c.153C>Gp.(His51Gln)Likely pathogenicPROVISIONAL
 2004-02-10
exon 3c.215G>Ap.(Cys72Tyr)PathogenicVALIDATED
 2004-02-05
exon 3c.250T>Cp.(Cys84Arg)PathogenicVALIDATED
 2004-02-05
intron 4c.473-16G>A-Likely benignVALIDATED
 2004-01-09
exon 2c.145T>Gp.(Tyr49Asp)PathogenicVALIDATED
 2003-11-21
exon 3c.306C>Gp.(Cys102Trp)Likely pathogenicVALIDATED
 2003-10-20
exon 3c.236C>Ap.(Thr79Lys)Likely pathogenicVALIDATED
 2003-09-16
exon 6c.596T>Ap.(Ile199Asn)Likely pathogenicVALIDATED
 2003-08-18
intron 7c.740-9T>C-Likely benignVALIDATED
 2003-08-05
5 flankingc.-581A>G-Not classifiedTo be validated
 2003-08-04
5 flankingc.-508A>G-Not classifiedTo be validated
 2003-07-14
intron 1c.39+1899(GT)17(GA)10-Not classifiedTo be validated
 2003-07-14
intron 6c.625+10A>G-Likely benignVALIDATED
 2003-07-14
exon 3c.211_213delGACp.(Asp71del)PathogenicVALIDATED
 2003-05-16
exon 3c.265T>Cp.(Phe89Leu)PathogenicVALIDATED
 2003-05-07
intron 4c.473-33T>C-Likely benignVALIDATED
 2003-04-25
exon 1c.36A>Gp.(=)BenignVALIDATED
 2003-04-25
5 flankingc.-383A>C-Not classifiedTo be validated
 2003-04-25
exon 3c.197C>Tp.(Thr66Ile)Likely pathogenicPROVISIONAL
 2003-04-23
5 flankingc.-610G>T-Not classifiedTo be validated
 2003-04-23
exon 3c.281A>Tp.(Asn94Ile)PathogenicVALIDATED
 2003-04-23
exon 4c.380G>Ap.(Cys127Tyr)PathogenicVALIDATED
 2003-02-14
intron 2c.194-14G>A-PathogenicVALIDATED
 2003-02-12
exon 3c.295T>Ap.(Cys99Ser)PathogenicVALIDATED
 2002-12-11
exon 3c.194G>Ap.(Gly65Glu)Likely pathogenicVALIDATED
 2002-11-18
exon 3c.214T>Cp.(Cys72Arg)PathogenicVALIDATED
 2002-10-31
exon 2c.145T>Cp.(Tyr49His)Likely pathogenicVALIDATED
 2002-10-25
exon 3c.304T>Cp.(Cys102Arg)Likely pathogenicVALIDATED
 2002-09-21
exon 4c.421T>Ap.(Phe141Ile)PathogenicVALIDATED
 2002-06-25
exon 4c.374G>Ap.(Cys125Tyr)PathogenicVALIDATED
 2002-06-25
exon 3c.287T>Cp.(Leu96Pro)Likely pathogenicVALIDATED
 2002-06-25
exon 3c.241T>Cp.(Cys81Arg)PathogenicVALIDATED
 2002-06-18
exon 3c.296G>Ap.(Cys99Tyr)PathogenicVALIDATED
 2002-03-18
exon 3c.224C>Tp.(Pro75Leu)Uncertain significance (VOUS)VALIDATED
 2002-03-18
exon 3c.295T>Cp.(Cys99Arg)PathogenicVALIDATED
 2002-02-12
exon 3c.200A>Gp.(Tyr67Cys)Likely pathogenicVALIDATED
 2002-02-12
exon 2c.173G>Tp.(Cys58Phe)PathogenicVALIDATED
 2002-02-12
exon 4c.362G>Ap.(Arg121Gln)Uncertain significance (VOUS)VALIDATED
 2002-01-25
exon 2c.151C>Tp.(His51Tyr)PathogenicVALIDATED
 2002-01-25
exon 4c.343T>Cp.(Ser115Pro)Likely pathogenicVALIDATED
 2002-01-14
exon 2c.184T>Gp.(Cys62Gly)PathogenicVALIDATED
 2002-01-08
exon 2c.176G>Cp.(Cys59Ser)PathogenicVALIDATED
 2002-01-03
exon 3c.251G>Cp.(Cys84Ser)PathogenicVALIDATED
 2002-01-03
exon 4c.362G>Cp.(Arg121Pro)Likely pathogenicVALIDATED
 2002-01-03
exon 2c.175T>Cp.(Cys59Arg)PathogenicVALIDATED
 2002-01-02
exon 2c.185G>Ap.(Cys62Tyr)PathogenicVALIDATED
 2002-01-02
exon 3c.236C>Tp.(Thr79Met)PathogenicVALIDATED
 2002-01-02
exon 3c.242G>Tp.(Cys81Phe)PathogenicVALIDATED
 2002-01-02
exon 4c.349T>Cp.(Cys117Arg)PathogenicVALIDATED
 2002-01-02
exon 4c.350G>Ap.(Cys117Tyr)PathogenicVALIDATED
 2002-01-02