PSTPIP1 (NM_003978.3) sequence variants

Editor(s): Isabella CECCHERINI   

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ADA2 (DADA2)AP1S3 (_)CARD14 (PRP/PSORS2)IL10 (IL10 deficiency)IL10RA (IL10R1 deficiency)IL10RB (IL10R2 deficiency)IL1RN (DIRA)IL36RN (DITRA)LACC1 (sJIA)LPIN2 (Majeed Syndrome)
MEFV (FMF)MVK (MKD/DSAP/RP)NCSTN (PASH)NLRC4 (AIFEC)NLRP1 (NAIAD)NLRP12 (NAPS12)NLRP3 (CAPS)NLRP7 (HYDM1)NOD2 (CD/BS/EOS)OTULIN (AIPDS)
PLCG2 (APLAID/PLAID)POMP (PRAAS2)PSMA3 (CANDLE/PRAAS)PSMB4 (CANDLE/PRAAS3)PSMB8 (JMP/NNS/CANDLE)PSMB9 (CANDLE/PRAAS3)PSMG2 (CANDLE/PRAAS4)PSTPIP1 (PAPA)RBCK1 (PBMEI)
SH3BP2 (Cherubism)SLC29A3 (H syndrome)TMEM173 (SAVI)TNFAIP3 (AISBL)TNFRSF11A (TRAPS11)TNFRSF1A (TRAPS)TRNT1 (SIFD)WDR1 (PFIT)

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Total current number of sequence variants for PSTPIP1 : 44

*Name as first published or submitted to Infevers. May be different from the HGVS edited protein and sequence names.

*This classification is proposed by I Ceccherini, D Rowczenio, Y Shinar, I Touitou, M van Gijn. 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
5UT
c.-282G>T
p.(=)
-282G>T
Uncertain significance (VOUS)To be validated
 2019-05-13
exon 1
c.5T>C
p.(Met2Thr)
M2T
Likely benignVALIDATED
 2013-09-06
exon 2
c.59C>T
p.(Thr20Met)
T20M
Uncertain significance (VOUS)To be validated
 2019-05-13
intron 2
c.137+47G>C
-
c.137+47G>C
BenignVALIDATED
 2011-12-22
exon 3
c.146C>T
p.(Ala49Val)
A49V
Uncertain significance (VOUS)To be validated
 2019-05-13
exon 3
c.155G>A
p.(Arg52Gln)
R52Q
Uncertain significance (VOUS)VALIDATED
 2012-03-02
exon 3
c.184C>T
p.(Arg62Trp)
R62W
Likely pathogenicTo be validated
 2019-05-13
exon 3
c.203C>T
p.(Thr68Met)
T68M
Not classifiedTo be validated
 2017-01-18
exon 5
c.330G>C
p.(Glu110Asp)
E110D
Uncertain significance (VOUS)To be validated
 2019-07-16
exon 6
c.364G>A
p.(Val122Ile)
V122I
Likely benignVALIDATED
 2016-11-23
exon 8
c.543G>A
p.(=)
G543A
Likely benignVALIDATED
 2012-06-13
exon 9
c.604C>T
p.(Arg202Trp)
R202W
Uncertain significance (VOUS)To be validated
 2019-07-16
exon 10
c.657A>C
p.(Gln219His)
Q219H
Not classifiedTo be validated
 2017-04-03
exon 10
c.682C>T
p.(Arg228Cys)
R228C
Not classifiedTo be validated
 2019-05-13
exon 10
c.688G>A
p.(Ala230Thr)
A230T
PathogenicVALIDATED
 2003-04-18
exon 10
c.736G>A
p.(Asp246Asn)
D246N
Likely pathogenicVALIDATED
 2013-07-08
intron 10
c.741+27G>T
-
c.741+27G>T
Likely benignVALIDATED
 2013-09-12
intron 10
c.741+33_741+34insGT
-
c.741+33_741+34insGT
Likely benignVALIDATED
 2006-04-24
exon 11
c.748G>C
p.(Glu250Gln)
E250Q
PathogenicVALIDATED
 2003-04-18
exon 11
c.748G>A
p.(Glu250Lys)
E250K
PathogenicVALIDATED
 2007-01-10
exon 11
c.769G>A
p.(Glu257Lys)
E257K
Likely pathogenicVALIDATED
 2013-07-24
exon 11
c.770A>G
p.(Glu257Gly)
E256G
Uncertain significance (VOUS)PROVISIONAL
 2013-09-17
exon 11
c.773G>C
p.(Gly258Ala)
G258A
Uncertain significance (VOUS)PROVISIONAL
 2012-06-12
exon 11
c.796G>A
p.(Asp266Asn)
D266N
Likely benignVALIDATED
 2006-05-22
exon 11
c.831G>T
p.(Glu277Asp)
E277D
Likely benignPROVISIONAL
 2013-06-24
exon 12
c.865G>C
p.(Asp289His)
D289H
Uncertain significance (VOUS)VALIDATED
 2016-11-23
exon 12
c.915C>T
p.(=)
C915T
BenignVALIDATED
 2012-06-13
exon 13
c.968C>T
p.(Ser323Leu)
S323L
Uncertain significance (VOUS)To be validated
 2019-07-16
intron 13
c.986-33dupA
-
c.986-33dupA
BenignVALIDATED
 2011-12-22
exon 14
c.986C>T
p.(Ala329Val)
A329V
Uncertain significance (VOUS)To be validated
 2019-05-13
exon 14
c.1030G>A
p.(Val344Ile)
Val344Ile
Uncertain significance (VOUS)VALIDATED
 2008-12-01
exon 14
c.1054G>A
p.(Glu352Lys)
E352K
Not classifiedTo be validated
 2019-07-01
exon 14
c.1093C>T
p.(Arg365Trp)
R365W
Uncertain significance (VOUS)To be validated
 2019-07-16
exon 14
c.1115C>T
p.(Ala372Val)
A372V
Not classifiedTo be validated
 2019-05-13
intron 14
c.1120-44_1120-31del
-
c.1120-44_1120-31
Likely benignVALIDATED
 2013-09-06
intron 14
c.1120-12T>C
p.(=)
1120-12T>C
Uncertain significance (VOUS)To be validated
 2019-05-13
exon 15
c.1151A>G
p.(Asp384Gly)
D384G
BenignVALIDATED
 2015-12-04
exon 15
c.1154T>C
p.(Ile385Thr)
c.1154T>C
Uncertain significance (VOUS)To be validated
 2019-03-27
exon 15
c.1179G>A
p.(=)
G1179A
Likely benignVALIDATED
 2012-06-13
exon 15
c.1207G>C
p.(Gly403Arg)
G403R
Uncertain significance (VOUS)VALIDATED
 2015-02-17
exon 15
c.1208G>A
p.(Gly403Glu)
G403E
Uncertain significance (VOUS)VALIDATED
 2015-12-23
exon 15
c.1213C>T
p.(Arg405Cys)
R405C
Uncertain significance (VOUS)VALIDATED
 2014-02-19
exon 15
c.1222G>A
p.(Val408Ile)
V408I
Uncertain significance (VOUS)To be validated
 2019-07-16
3UT
c.*156_*158del
-
c.*156_158del
BenignVALIDATED
 2012-12-10