IL1RN (NM_173842.3) sequence variants
(IRAP/IL1F3/IL1RA/IL-1ra3/ICIL-1RA/MGC10430/LOC3557)

Editor(s): Polly FERGUSON   

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Total current number of sequence variants for IL1RN : 25

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

** 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
intron 3
c.318+2T>G
p.Glu69Glyfs*2
E3skipping
Likely pathogenicTo be validated
 2023-08-01 
intron 1
c.116+774del2593
p.Ile40Glnfs*6
Δ2593bp_I1toE3
Likely pathogenicTo be validated
 2023-08-01 
5 flanking
c.-20191_191del
p.?
Exon1-4deletion
Likely pathogenicTo be validated
 2021-10-07 
exon 2
c.156del
p.(Asn52Lysfs*4)
N18Kfs*4
Likely pathogenicTo be validated
 2021-01-11 
exon 2
c.133C>T
p.(Gln45*)
Q45*
Likely pathogenicTo be validated
 2021-01-11 
exon 2
c.141del
p.(Phe48Serfs*3)
T47Tfs*4
Likely pathogenicTo be validated
 2021-01-11 
exon 1
c.62C>G
p.(Ser21*)
S21*
Likely pathogenicTo be validated
 2020-06-02 
5 flanking
c.-4153_191del
p.?
del IL1RN
Likely pathogenicTo be validated
 2019-08-212020-06-22
exon 4
c.418G>A
p.(Ala140Thr)
A106T
Uncertain significance (VUS)To be validated
 2019-07-162019-08-13
exon 1
c.76C>T
p.(Arg26*)
R26*
Not classifiedTo be validated
 2017-05-172020-04-03
exon 4
c.396delC
p.(Thr133Profs*118)
c.396delC
Not classifiedTo be validated
 2015-03-262019-04-13
exon 4
c.370G>A
p.(Ala124Thr)
A124T
Not classifiedTo be validated
 2014-12-172016-05-16
3UT
c.*162C>T
p.?
c.*162C>T
Not classifiedTo be validated
 2013-10-15 
3UT
c.*138C>G
p.?
c.*138C>G
Not classifiedTo be validated
 2013-08-27 
intron 1
c.116+34G>A
p.?
c.116+34G>A
Not classifiedTo be validated
 2013-08-272013-09-10
exon 4
c.390T>C
p.(Ser130=)
S130S
Not classifiedTo be validated
 2013-08-27 
exon 4
c.355C>T
p.(Gln119*)
Q119X
Not classifiedTo be validated
 2013-02-05 
exon 3
c.272G>T
p.(Cys91Phe)
C91F
Not classifiedTo be validated
 2012-07-052013-01-24
exon 2
c.171T>C
p.(Ala57=)
A60A
Not classifiedTo be validated
 2011-09-01 
intron 2
c.206-516_206-430(2_6)
p.?
VNTR
Not classifiedTo be validated
 2011-09-012012-03-29
exon 3
c.213_227delAGATGTGGTACCCAT
p.(Asp72_Ile76del )
p.Asp72_Ile76del
Not classifiedTo be validated
 2011-08-052013-01-02
5 flanking
c.(?_-64)_(1696_?)del
p.?
IL1F9_IL1RNdel
Not classifiedTo be validated
 2009-08-062021-01-22
exon 3
c.229G>T
p.(Glu77*)
E77X
Not classifiedTo be validated
 2009-08-03 
exon 2
c.156_157del
p.(Asn52Lysfs*25)
N52KfsX25
Not classifiedTo be validated
 2009-08-03 
exon 2
c.160C>T
p.(Gln54*)
Q54X
Not classifiedTo be validated
 2009-08-03