NLRP3 (NM_001243133.1) sequence variants
(CIAS1/NALP3/PYPAF1/CLR1.1)

Editor(s): Hal HOFFMAN   

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

Total current number of sequence variants for NLRP3 : 209

*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
5UTc.-40G>T-Likely benignVALIDATED
 2017-09-05
exon 1c.55G>Cp.Asp19HisNot classifiedNot classified
 2018-02-01
exon 1c.86A>Tp.Asp29ValNot classifiedNot classified
 2017-02-27
exon 1c.146A>Gp.His49ArgUncertain significance (VOUS)VALIDATED
 2013-07-01
exon 1c.207C>Tp.(=)BenignVALIDATED
 2013-05-06
exon 1c.224C>Tp.Ala75ValUncertain significance (VOUS)VALIDATED
 2017-08-18
intron 1c.278-196T>C-Likely benignVALIDATED
 2007-08-14
intron 1c.278-45T>C-Likely benignVALIDATED
 2008-01-21
intron 2c.397+7G>A-Likely benignVALIDATED
 2017-09-05
intron 2c.398-229T>G-Likely benignVALIDATED
 2010-09-29
intron 2c.398-56C>T-Likely benignVALIDATED
 2004-12-10
intron 2c.398-15C>T-Likely benignPROVISIONAL
 2012-01-03
exon 3c.404G>Ap.Arg135HisUnsolvedUNSOLVED
 2010-12-13
exon 3c.423C>Tp.(=)Likely benignVALIDATED
 2005-05-23
exon 3c.443G>Ap.Cys148TyrUncertain significance (VOUS)VALIDATED
 2007-12-24
exon 3c.450A>Gp.(=)Likely benignVALIDATED
 2013-05-06
exon 3c.503G>Ap.Arg168GlnLikely pathogenicPROVISIONAL
 2006-01-25
exon 3c.508C>Ap.Arg170SerLikely pathogenicVALIDATED
 2013-12-13
exon 3c.515T>Cp.Ile172ThrLikely pathogenicPROVISIONAL
 2004-03-18
exon 3c.517A>Gp.Lys173GluUncertain significance (VOUS)VALIDATED
 2013-02-05
exon 1c.526C>Tp.Arg176TrpNot classifiedNot classified
 2016-12-21
exon 3c.578C>Ap.Thr193LysUncertain significance (VOUS)VALIDATED
 2011-01-04
exon 3c.578C>Tp.Thr193MetUncertain significance (VOUS)PROVISIONAL
 2014-11-03
exon 3c.587G>Ap.Ser196AsnLikely benignVALIDATED
 2005-12-24
exon 3c.592G>Ap.Val198MetUncertain significance (VOUS)VALIDATED
 2002-07-12
exon 3c.598C>Ap.Pro200ThrNot classifiedNot classified
 2015-03-31
exon 3c.631G>Ap.Asp211AsnUncertain significance (VOUS)VALIDATED
 2013-08-30
exon 3c.638A>Gp.His213ArgUncertain significance (VOUS)PROVISIONAL
 2014-02-21
exon 3c.657C>Tp.(=)BenignVALIDATED
 2002-07-28
exon 3c.674C>Tp.Ala225ValUncertain significance (VOUS)VALIDATED
 2008-04-23
exon 3c.681G>Tp.(=)Likely benignVALIDATED
 2017-08-18
exon 3c.693A>Tp.(=)Likely benignVALIDATED
 2012-08-22
exon 3c.699G>Ap.(=)Likely benignVALIDATED
 2008-10-23
exon 3c.726G>Ap.(=)BenignVALIDATED
 2002-07-28
exon 3c.760C>Ap.Leu254MetNot classifiedNot classified
 2018-02-27
exon 3c.777T>Gp.Cys259TrpLikely pathogenicVALIDATED
 2007-04-09
exon 3c.778C>Tp.Arg260TrpPathogenicVALIDATED
 2002-06-21
exon 3c.779G>Tp.Arg260LeuPathogenicVALIDATED
 2003-12-29
exon 3c.779G>Cp.Arg260ProPathogenicVALIDATED
 2003-12-29
exon 3c.779G>Ap.Arg260GlnNot classifiedNot classified
 2016-02-02
exon 3c.780G>Ap.(=)Likely benignVALIDATED
 2002-07-28
exon 3c.785T>Cp.Val262AlaLikely pathogenicVALIDATED
 2007-04-09
exon 3c.785T>Gp.Val262GlyLikely pathogenicPROVISIONAL
 2008-02-13
exon 3c.790C>Tp.Leu264PheLikely pathogenicVALIDATED
 2007-04-09
exon 3c.790C>Gp.Leu264ValLikely pathogenicVALIDATED
 2007-05-17
exon 3c.791T>Ap.Leu264HisPathogenicVALIDATED
 2002-09-16
exon 3c.791T>Gp.Leu264ArgLikely pathogenicVALIDATED
 2004-08-17
exon 3c.791T>Cp.Leu264ProLikely pathogenicVALIDATED
 2017-08-16
exon 3c.796A>Cp.Thr266ProLikely pathogenicPROVISIONAL
 2010-07-29
exon 3c.838G>Ap.Asp280AsnUncertain significance (VOUS)VALIDATED
 2014-04-01
exon 3c.864C>Gp.Ile288MetUncertain significance (VOUS)VALIDATED
 2013-05-21
exon 3c.895A>Gp.Met299ValUncertain significance (VOUS)VALIDATED
 2008-04-23
exon 3c.901G>Ap.Gly301SerUnsolvedUNSOLVED
 2013-05-06
exon 3c.902G>Ap.Gly301AspUnsolvedUNSOLVED
 2003-02-28
exon 3c.907G>Ap.Asp303AsnPathogenicVALIDATED
 2002-06-21
exon 3c.907G>Cp.Asp303HisLikely pathogenicVALIDATED
 2007-03-15
exon 3c.908A>Gp.Asp303GlyPathogenicVALIDATED
 2003-12-29
exon 3c.908A>Cp.Asp303AlaLikely pathogenicVALIDATED
 2013-12-13
exon 3c.910G>Ap.Glu304LysPathogenicVALIDATED
 2007-07-03
exon 3c.914T>Cp.Leu305ProPathogenicVALIDATED
 2002-07-12
exon 3c.916C>Ap.Gln306LysLikely pathogenicPROVISIONAL
 2002-07-28
exon 3c.916C>Gp.Gln306GluLikely pathogenicPROVISIONAL
 2009-03-30
exon 3c.919G>Ap.Gly307SerLikely pathogenicVALIDATED
 2011-09-01
exon 3c.920G>Tp.Gly307ValLikely pathogenicVALIDATED
 2006-08-08
exon 3c.920G>Ap.Gly307AspNot classifiedNot classified
 2017-08-25
exon 3c.926T>Cp.Phe309SerLikely pathogenicVALIDATED
 2002-07-28
exon 3c.926T>Ap.Phe309TyrLikely pathogenicVALIDATED
 2013-05-30
exon 3c.930C>Tp.(=)Likely benignVALIDATED
 2003-04-19
exon 3c.931G>Ap.Glu311LysLikely pathogenicVALIDATED
 2006-08-08
exon 3c.935A>Cp.His312ProLikely pathogenicVALIDATED
 2007-12-26
exon 3c.937A>Gp.Ile313ValUncertain significance (VOUS)PROVISIONAL
 2009-03-09
exon 3c.944C>Tp.Pro315LeuUncertain significance (VOUS)VALIDATED
 2006-01-23
exon 3c.973C>Tp.Arg325TrpLikely pathogenicVALIDATED
 2009-01-07
exon 3c.974G>Ap.Arg325GlnUncertain significance (VOUS)VALIDATED
 2010-05-06
exon 3c.977G>Ap.Gly326GluLikely pathogenicVALIDATED
 2005-07-03
exon 3c.993C>Ap.Ser331ArgLikely pathogenicPROVISIONAL
 2004-08-25
exon 4c.995G>Ap.Ser332Asn Uncertain significance (VOUS)VALIDATED
 2017-08-18
exon 3c.1000A>Gp.Ile334ValLikely pathogenicPROVISIONAL
 2009-09-21
exon 3c.1020C>Tp.(=)BenignVALIDATED
 2004-09-21
exon 3c.1032G>Ap.(=)BenignVALIDATED
 2006-09-01
exon 3c.1043C>Tp.Thr348MetPathogenicVALIDATED
 2002-06-21
exon 3c.1044G>Ap.(=)BenignVALIDATED
 2013-05-06
exon 3c.1049C>Tp.Pro350LeuUnsolvedUNSOLVED
 2013-02-05
exon 3c.1051G>Ap.Val351MetLikely pathogenicPROVISIONAL
 2006-01-24
exon 3c.1051G>Cp.Val351LeuLikely pathogenicPROVISIONAL
 2006-10-22
exon 3c.1054G>Ap.Ala352ThrLikely pathogenicVALIDATED
 2009-06-19
exon 3c.1055C>Tp.Ala352ValPathogenicVALIDATED
 2002-04-30
exon 3c.1058T>Cp.Leu353ProLikely pathogenicVALIDATED
 2002-09-17
exon 3c.1062G>Tp.Glu354AspLikely pathogenicVALIDATED
 2003-12-29
exon 3c.1064A>Cp.Lys355ThrLikely pathogenicVALIDATED
 2013-12-13
exon 3c.1065A>Tp.Lys355AsnLikely pathogenicPROVISIONAL
 2011-10-10
exon 3c.1073A>Gp.His358ArgLikely pathogenicVALIDATED
 2002-07-28
exon 3c.1105C>Ap.Leu369MetUncertain significance (VOUS)VALIDATED
 2012-09-03
exon 3c.1121C>Ap.Ala374AspLikely pathogenicVALIDATED
 2002-09-16
exon 3c.1123A>Gp.Lys375GluUncertain significance (VOUS)VALIDATED
 2011-08-03
exon 3c.1132G>Ap.Glu378LysUncertain significance (VOUS)VALIDATED
 2012-01-12
exon 3c.1213A>Cp.Thr405ProLikely pathogenicVALIDATED
 2003-12-29
exon 3c.1216A>Gp.Met406ValLikely pathogenicVALIDATED
 2011-10-10
exon 3c.1218G>Cp.Met406IleLikely pathogenicVALIDATED
 2007-07-27
exon 3c.1231C>Tp.(=)BenignVALIDATED
2003-05-27
exon 3c.1231C>Gp.Leu411ValLikely pathogenicPROVISIONAL
 2013-05-06
exon 3c.1233G>Tp.(=)BenignVALIDATED
2013-12-13
exon 3c.1241G>Tp.Trp414LeuLikely pathogenicPROVISIONAL
 2008-08-05
exon 3c.1245C>Tp.(=)Likely benignVALIDATED
 2013-05-06
exon 3c.1298C>Tp.Thr433IleLikely pathogenicPROVISIONAL
 2011-10-10
exon 3c.1302C>Tp.(=)BenignVALIDATED
 2002-07-28
exon 3c.1303A>Gp.Lys435GluUncertain significance (VOUS)PROVISIONAL
 2013-07-01
exon 3c.1306A>Cp.Thr436ProLikely pathogenicVALIDATED
 2006-02-28
exon 3c.1306A>Gp.Thr436AlaLikely pathogenicVALIDATED
 2007-06-23
exon 3c.1306_1308delp.Thr438delLikely pathogenicPROVISIONAL
 2008-04-02
exon 3c.1307C>Ap.Thr436AsnLikely pathogenicVALIDATED
 2002-07-28
exon 3c.1307C>Tp.Thr436IlePathogenicVALIDATED
 2003-12-29
exon 3c.1315G>Ap.Ala439ThrLikely pathogenicVALIDATED
 2002-06-21
exon 3c.1315G>Cp.Ala439ProLikely pathogenicVALIDATED
 2004-09-17
exon 3c.1316C>Tp.Ala439ValPathogenicVALIDATED
 2002-04-30
exon 3c.1321T>Cp.Tyr441HisUncertain significance (VOUS)VALIDATED
 2008-12-02
exon 3c.1323C>Tp.(=)Likely benignVALIDATED
 2013-05-06
exon 3c.1329C>Gp.Phe443LeuLikely pathogenicVALIDATED
 2007-04-09
exon 3c.1374C>Tp.(=)Likely benignVALIDATED
 2007-05-17
exon 3c.1383C>Tp.(=)Likely benignVALIDATED
 2003-04-19
exon 3c.1389C>Tp.(=)BenignVALIDATED
 2003-04-19
exon 3c.1401C>Tp.(=)Likely benignVALIDATED
 2010-08-26
exon 3c.1431C>Ap.Asn477LysLikely pathogenicVALIDATED
 2007-07-03
exon 3c.1438A>Tp.Ile480PheLikely pathogenicVALIDATED
 2007-05-23
exon 3c.1463G>Ap.Arg488LysUncertain significance (VOUS)VALIDATED
 2003-01-13
exon 3c.1484C>Tp.Ala495ValUncertain significance (VOUS)VALIDATED
 2007-03-15
exon 3c.1562T>Cp.Met521ThrUncertain significance (VOUS)VALIDATED
 2013-07-02
exon 3c.1568T>Gp.Phe523CysPathogenicVALIDATED
 2007-04-09
exon 3c.1568T>Ap.Phe523TyrLikely pathogenicVALIDATED
 2017-08-18
exon 3c.1569C>Ap.Phe523LeuLikely pathogenicVALIDATED
 2002-09-16
exon 3c.1569C>Gp.Phe523LeuLikely pathogenicVALIDATED
 2002-09-16
exon 3c.1573G>Ap.Glu525LysLikely pathogenicVALIDATED
 2005-08-16
exon 3c.1574A>Tp.Glu525ValLikely pathogenicVALIDATED
 2010-11-30
exon 3c.1600C>Tp.(=)Likely benignVALIDATED
 2003-04-19
exon 3c.1625C>Tp.Thr542MetUncertain significance (VOUS)VALIDATED
 2014-12-03
exon 3c.1642C>Tp.Arg548CysUnsolvedUNSOLVED
 2013-05-06
exon 3c.1660C>Tp.Arg554*Likely pathogenicVALIDATED
 2005-12-27
exon 3c.1669A>Gp.Thr557AlaUncertain significance (VOUS)VALIDATED
 2006-01-11
exon 3c.1687T>Ap.Tyr563AsnLikely pathogenicVALIDATED
 2007-04-09
exon 3c.1688A>Gp.Tyr563CysNot classifiedNot classified
 2017-09-24
exon 3c.1690G>Ap.Gly564SerNot classifiedNot classified
 2017-09-24
exon 3c.1698C>Ap.Phe566LeuLikely pathogenicVALIDATED
 2011-10-10
exon 3c.1699G>Ap.Glu567LysLikely pathogenicVALIDATED
 2007-12-06
exon 3c.1700A>Cp.Glu567AlaLikely pathogenicVALIDATED
 2013-12-13
exon 3c.1704G>Cp.Lys568AsnLikely pathogenicVALIDATED
 2011-10-10
exon 3c.1705G>Cp.Gly569ArgPathogenicVALIDATED
 2002-06-21
exon 3c.1706G>Cp.Gly569AlaLikely pathogenicVALIDATED
 2008-03-13
exon 3c.1708T>Cp.Tyr570HisNot classifiedNot classified
 2017-01-18
exon 3c.1708T>Ap.Tyr570AsnLikely pathogenicVALIDATED
 2017-08-16
exon 3c.1709A>Gp.Tyr570CysLikely pathogenicVALIDATED
 2002-09-16
exon 3c.1709A>Tp.Tyr570PheLikely pathogenicVALIDATED
 2006-04-04
exon 3c.1713G>Tp.Leu571PheLikely pathogenicVALIDATED
 2008-02-25
exon 3c.1713G>Cp.Leu571PheLikely pathogenicVALIDATED
 2010-05-06
exon 3c.1714A>Tp.Ile572PheLikely pathogenicVALIDATED
 2008-02-25
exon 3c.1718T>Cp.Phe573SerLikely pathogenicVALIDATED
 2002-07-28
exon 3c.1760C>Tp.Thr587IleLikely pathogenicPROVISIONAL
 2006-08-02
exon 3c.1783A>Gp.Ser595GlyLikely pathogenicVALIDATED
 2010-11-30
exon 3c.1792A>Tp.Ile598PheLikely pathogenicVALIDATED
 2013-03-29
exon 3c.1814A>Tp.Glu605ValNot classifiedNot classified
 2017-12-20
exon 3c.1880A>Gp.Glu627GlyPathogenicVALIDATED
 2002-04-30
exon 3c.1881A>T p.Glu627AspLikely pathogenicVALIDATED
 2010-09-09
exon 3c.1896G>Tp.Leu632PhePathogenicVALIDATED
 2003-12-29
exon 3c.1906C>Gp.Gln636GluNot classifiedNot classified
 2016-06-10
exon 3c.1936G>Tp.Asp646TyrUncertain significance (VOUS)VALIDATED
 2014-02-24
exon 3c.1945C>Tp.Pro649SerNot classifiedNot classified
 2016-09-27
exon 3c.1976T>Ap.Met659LysPathogenicVALIDATED
 2005-08-16
exon 3c.1985T>Cp.Met662ThrLikely pathogenicVALIDATED
 2002-07-28
exon 3c.2030T>Cp.Leu677ProUncertain significance (VOUS)VALIDATED
 2013-05-06
exon 3c.2034C>Tp.(=)Likely benignVALIDATED
 2017-08-18
exon 3c.2062G>Ap.Glu688LysLikely pathogenicVALIDATED
 2007-07-03
exon 3c.2068G>Ap.Glu690LysUnsolvedUNSOLVED
 2008-04-28
exon 3c.2102T>Cp.Met701ThrUncertain significance (VOUS)PROVISIONAL
 2008-08-18
exon 3c.2107C>Ap.Gln703LysUncertain significance (VOUS)VALIDATED
 2002-12-12
exon 3c.2129C>Gp.Ser710CysUncertain significance (VOUS)PROVISIONAL
 2004-11-15
exon 3c.2133T>Cp.His711HisLikely benignVALIDATED
 2017-09-05
exon 3c.2134G>Tp.Ala712SerUncertain significance (VOUS)PROVISIONAL
 2013-08-16
intron 3c.2150+59G>A-BenignVALIDATED
 2007-08-14
exon 4c.2176A>Gp.Ser726GlyUncertain significance (VOUS)VALIDATED
 2011-07-14
exon 4c.2263G>Cp.Gly755ArgPathogenicVALIDATED
 2006-08-08
exon 4c.2263G>Ap.Gly755ArgPathogenicVALIDATED
 2012-05-07
exon 4c.2264G>Cp.Gly755AlaLikely pathogenicVALIDATED
 2007-01-10
intron 4c.2321+85A>G-BenignVALIDATED
 2005-12-29
intron 4c.2322-527_2322-486(6_12)-Not classifiedNot classified
 2007-08-14
intron 4c.2322-225T>C-Likely benignVALIDATED
 2017-09-05
intron 4c.2322-224G>A-Likely benignVALIDATED
 2017-09-05
intron 4c.2322-197T>G-Likely benignVALIDATED
 2017-09-05
intron 4c.2322-194T>C-Likely benignVALIDATED
 2017-09-05
intron 4c.2322-76C>T-BenignVALIDATED
 2004-12-10
intron 4c.2322-55_2322-54ins42-Not classifiedNot classified
 2004-12-10
intron 4c.2322-40G>A-BenignVALIDATED
 2004-12-07
exon 5c.2425G>Ap.Gly809SerUncertain significance (VOUS)VALIDATED
 2012-01-12
intron 6c.2492+82delG-Likely benignVALIDATED
 2017-09-05
intron 6c.2493-133G>C-Likely benignVALIDATED
 2017-09-05
intron 6c.2493-40G>A-Likely benignVALIDATED
 2017-09-05
exon 6c.2575T>Cp.Tyr859HisLikely pathogenicVALIDATED
 2013-05-06
exon 6c.2576A>Gp.Tyr859CysLikely pathogenicVALIDATED
 2004-09-02
exon 6c.2580G>Tp.(=)Likely benignVALIDATED
 2013-05-06
exon 6c.2596G>Ap.Gly866ArgUncertain significance (VOUS)VALIDATED
 2013-05-06
intron 6c.2663+71T>C-Likely benignVALIDATED
 2017-09-05
intron 6c.2663+859A>C-BenignVALIDATED
 2007-08-14
exon 7c.2686T>Cp.Ser896ProUncertain significance (VOUS)VALIDATED
 2017-09-05
exon 7c.2753G>Ap.Arg918GlnNot classifiedNot classified
 2017-09-06
exon 8c.2855C>Tp.Thr952MetUncertain significance (VOUS)VALIDATED
 2013-07-01
intron 8c.3005+25C>T-Likely benignVALIDATED
 2008-01-21
intron 8c.3005+44C>A-BenignVALIDATED
 2005-04-19
intron 8c.3006-45_3006-44del-Likely benignVALIDATED
 2005-12-19
3UTc.*177delC-Likely benignPROVISIONAL
 2005-12-19
3UTc.*230C>G-Not classifiedNot classified
 2005-04-19
exon 3c.1807A>Gp.Arg603GlyNot classifiedNot classified
 2017-09-28