PSTPIP1 (NM_003978.3) sequence variants

Editor(s): Isabella CECCHERINI   

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Total current number of sequence variants for PSTPIP1 : 30

*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

Usual name*
HGVS sequence name
HGVS protein name
Classification *
Status *
Simple variant
Complex alleles
M2T
exon 1
c.5T>C
p.(Met2Thr)Likely benignVALIDATED
 2013-09-06
c.137+47G>C
intron 2
c.137+47G>C
-BenignVALIDATED
 2011-12-22
R52Q
exon 3
c.155G>A
p.(Arg52Gln)Uncertain significance (VOUS)VALIDATED
 2012-03-02
T68M
exon 3
c.203C>T
p.(Thr68Met)Not classifiedTo be validated
 2017-01-18
V122I
exon 6
c.364G>A
p.(Val122Ile)Likely benignVALIDATED
 2016-11-23
G543A
exon 8
c.543G>A
p.(=)Likely benignVALIDATED
 2012-06-13
Q219H
exon 10
c.657A>C
p.(Gln219His)Not classifiedTo be validated
 2017-04-03
R228C
exon 10
c.682C>T
p.(Arg228Cys)Not classifiedTo be validated
 2019-05-13
A230T
exon 10
c.688G>A
p.(Ala230Thr)PathogenicVALIDATED
 2003-04-18
D246N
exon 10
c.736G>A
p.(Asp246Asn)Likely pathogenicVALIDATED
 2013-07-08
c.741+27G>T
intron 10
c.741+27G>T
-Likely benignVALIDATED
 2013-09-12
c.741+33_741+34insGT
intron 10
c.741+33_741+34insGT
-Likely benignVALIDATED
 2006-04-24
E250Q
exon 11
c.748G>C
p.(Glu250Gln)PathogenicVALIDATED
 2003-04-18
E250K
exon 11
c.748G>A
p.(Glu250Lys)PathogenicVALIDATED
 2007-01-10
E257K
exon 11
c.769G>A
p.(Glu257Lys)Likely pathogenicVALIDATED
 2013-07-24
E256G
exon 11
c.770A>G
p.(Glu257Gly)Uncertain significance (VOUS)PROVISIONAL
 2013-09-17
G258A
exon 11
c.773G>C
p.(Gly258Ala)Uncertain significance (VOUS)PROVISIONAL
 2012-06-12
D266N
exon 11
c.796G>A
p.(Asp266Asn)Likely benignVALIDATED
 2006-05-22
E277D
exon 11
c.831G>T
p.(Glu277Asp)Likely benignPROVISIONAL
 2013-06-24
D289H
exon 12
c.865G>C
p.(Asp289His)Uncertain significance (VOUS)VALIDATED
 2016-11-23
C915T
exon 12
c.915C>T
p.(=)BenignVALIDATED
 2012-06-13
c.986-33dupA
intron 13
c.986-33dupA
-BenignVALIDATED
 2011-12-22
Val344Ile
exon 14
c.1030G>A
p.(Val344Ile)Uncertain significance (VOUS)VALIDATED
 2008-12-01
c.1120-44_1120-31
intron 14
c.1120-44_1120-31del
-Likely benignVALIDATED
 2013-09-06
D384G
exon 15
c.1151A>G
p.(Asp384Gly)BenignVALIDATED
 2015-12-04
G1179A
exon 15
c.1179G>A
p.(=)Likely benignVALIDATED
 2012-06-13
G403R
exon 15
c.1207G>C
p.(Gly403Arg)Uncertain significance (VOUS)VALIDATED
 2015-02-17
G403E
exon 15
c.1208G>A
p.(Gly403Glu)Uncertain significance (VOUS)VALIDATED
 2015-12-23
R405C
exon 15
c.1213C>T
p.(Arg405Cys)Uncertain significance (VOUS)VALIDATED
 2014-02-19
c.*156_158del
3UT
c.*156_*158del
-BenignVALIDATED
 2012-12-10