ADA2 (NM_001282225.2) sequence variants
(PAN, ADGF, CECR1, IDGFL, SNEDS)

Editor(s): Ivona AKSENTIJEVICH   

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Total current number of sequence variants for ADA2 : 159

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

**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
Usual name*
Classification**
Status**
Simple variant
Complex alleles
5 flanking
c.-10646_-46-4514del
p.?
del EXON 1
PathogenicVALIDATED
 2017-04-272019-10-18
5 flanking
c.-2484del
p.?
c.-114delC
Uncertain significance (VUS)VALIDATED
 2017-04-272019-04-18
5 flanking
c.0
p.0
del(22)(q11.)1
Not classifiedTo be validated
 2019-03-052020-05-12
intron 1
c.-47+2T>C
p.0
c.-47+2T>C
Likely pathogenicTo be validated
 2021-01-11 
5UT
c.-43C>T
p.?
-43C>T
Uncertain significance (VUS)To be validated
 2019-05-21 
5UT
c.-42G>A
p.?
c.-42G>A
Likely benignTo be validated
 2024-02-152024-02-15
5UT
c.-31A>G
p.?
-31A>G
Not classifiedTo be validated
 2019-05-21 
5UT
c.-14G>T
p.?
c.-14G>T
Uncertain significance (VUS)To be validated
 2022-01-11 
exon 2
c.2T>C
p.?
M1T
PathogenicVALIDATED
 2014-02-252019-10-18
exon 2
c.17C>T
p.(Pro6Leu)
P6L
Uncertain significance (VUS)To be validated
 2023-09-14 
exon 2
c.25C>T
p.(Arg9Trp)
R9W
Likely pathogenicTo be validated
 2019-05-212020-01-27
exon 2
c.73G>T
p.(Gly25Cys)
G25C
Likely pathogenicVALIDATED
 2014-06-132014-09-17
exon 2
c.89T>C
p.(Ile30Thr)
I30T
Uncertain significance (VUS)To be validated
 2021-01-19 
exon 2
c.97dup
p.(Thr33AsnfsTer29)
T33Nfs*29
Likely pathogenicTo be validated
 2023-02-25 
exon 2
c.100C>T
p.(Arg34Trp)
R34W
Likely pathogenicTo be validated
 2019-07-112022-02-28
exon 2
c.133C>T
p.(Arg45Trp)
R45W
Uncertain significance (VUS)To be validated
 2019-05-21 
exon 2
c.138G>C
p.(Leu46=)
c.138G>C
BenignVALIDATED
 2018-03-30 
exon 2
c.139G>A
p.(Gly47Arg)
G47R
PathogenicVALIDATED
 2014-02-252022-01-19
exon 2
c.139G>C
p.(Gly47Arg)
G47R GC
PathogenicTo be validated
 2021-05-272021-12-21
exon 2
c.139G>T
p.(Gly47Trp)
G47W
Likely pathogenicVALIDATED
 2015-09-172019-11-20
exon 2
c.140G>C
p.(Gly47Ala)
G47A
PathogenicVALIDATED
 2014-02-252014-03-11
exon 2
c.140G>T
p.(Gly47Val)
G47V
Likely pathogenicVALIDATED
 2014-02-262014-03-11
exon 2
c.142G>A
p.(Gly48Arg)
G48R
Likely pathogenicTo be validated
 2020-11-27 
exon 2
c.143dup
p.(Arg49Alafs*13)
R49Afs*13
Likely pathogenicTo be validated
 2019-03-05 
exon 2
c.144del
p.(Arg49Glyfs*4)
c.144delG
PathogenicVALIDATED
 2014-09-242023-02-06
exon 2
c.145C>T
p.(Arg49Trp)
R49W
Uncertain significance (VUS)VALIDATED
 2017-01-152017-09-11
exon 2
c.158del
p.(Asn53Thrfs*12)
c.158del
Likely pathogenicTo be validated
 2019-02-28 
exon 2
c.159C>T
p.(Asn53=)
N53N
BenignVALIDATED
 2014-03-11 
exon 2
c.163_165del
p.(Lys55del)
K13del
Likely pathogenicVALIDATED
 2017-04-27 
exon 2
c.232_322+105delinsATG
p.?
c.232_322+105delinsATG
Not classifiedTo be validated
 2021-05-27 
exon 2
c.272del
p.(His91Leufs*12)
H91Lfs
PathogenicTo be validated
 2022-02-21 
exon 2
c.272A>G
p.(His91Arg)
H91R
Not classifiedTo be validated
 2021-05-27 
exon 2
c.278T>C
p.(Ile93Thr)
I93T
Likely pathogenicVALIDATED
 2014-02-252016-12-26
exon 2
c.316C>T
p.(Pro106Ser)
P106S
Likely pathogenicTo be validated
 2022-02-21 
exon 2
c.321del
p.(Ala109Leufs*11)
p.A109Lfs*11
Likely pathogenicTo be validated
 2023-02-25 
exon 3
c.326C>A
p.(Ala109Asp)
A109D
PathogenicVALIDATED
 2014-02-252014-03-11
exon 3
c.334C>T
p.(His112Tyr)
H112Y
Likely pathogenicTo be validated
 2021-01-11 
exon 3
c.336C>G
p.(His112Gln)
H112Q
PathogenicVALIDATED
 2014-02-252014-03-11
exon 3
c.346del
p.(Ile116Leufs*4)
116Lfs*4
Likely pathogenicTo be validated
 2023-02-25 
exon 3
c.385A>C
p.(Thr129Pro)
T129P
Not classifiedTo be validated
 2018-10-07 
exon 3
c.389_407del
p.(Tyr130SerfsTer48)
p.(Y130Sfs*48)
Likely pathogenicTo be validated
 2023-02-09 
exon 3
c.393del
p.(Arg131Serfs*53)
R131Sfs
Likely pathogenicTo be validated
 2021-08-26 
exon 3
c.396_397del
p.(His133Leufs*44)
c.396_397del
Likely pathogenicTo be validated
 2021-03-092021-04-19
exon 3
c.401G>A
p.(Cys134Tyr)
C134Y
PathogenicTo be validated
 2024-07-162024-08-12
exon 3
c.427del
p.(Ile143Serfs*41)
I143Sfs*41
PathogenicVALIDATED
 2017-04-272018-04-18
exon 3
c.452del
p.(Pro151Glnfs*33)
P151QfsX
Not classifiedTo be validated
 2022-08-102022-08-10
exon 3
c.464del
p.(Pro155Hisfs*29)
P155Hfs*29
Not classifiedTo be validated
 2023-03-032023-03-13
exon 3
c.476G>A
p.(Cys159Tyr)
C159Y
Likely pathogenicTo be validated
 2019-05-212022-04-27
exon 3
c.484T>C
p.(Trp162Arg)
W162R
Likely pathogenicTo be validated
 2023-02-25 
exon 3
c.505C>G
p.(Arg169Gly)
R169G
PathogenicTo be validated
 2021-05-27 
exon 3
c.506G>A
p.(Arg169Gln)
R169Q
PathogenicVALIDATED
 2014-02-252014-03-11
exon 3
c.533T>C
p.(Phe178Ser)
F178S
Likely pathogenicTo be validated
 2019-03-05 
intron 3
c.542+1G>A
p.?
c.542+1G>A
Likely pathogenicTo be validated
 2019-03-062019-03-06
intron 3
c.542+7A>G
p.?
542+7A>G
Uncertain significance (VUS)To be validated
 2019-05-21 
exon 4
c.548T>C
p.(Leu183Pro)
L183P
Likely pathogenicTo be validated
 2019-07-162022-10-02
exon 4
c.559A>C
p.(Thr187Pro)
T187P
Likely pathogenicTo be validated
 2022-08-102022-08-11
exon 4
c.562C>G
p.(Leu188Val)
L188V
Likely pathogenicTo be validated
 2021-01-11 
exon 4
c.563T>C
p.(Leu188Pro)
L188P
Likely pathogenicTo be validated
 2020-04-022022-02-21
exon 4
c.578C>T
p.(Pro193Leu)
P193L
Likely pathogenicVALIDATED
 2014-10-062019-01-15
exon 4
c.608T>C
p.(Val203Ala)
V203A
Uncertain significance (VUS)To be validated
 2022-04-19 
exon 4
c.612G>C
p.(Trp204Cys)
W204C
Likely pathogenicTo be validated
 2022-02-21 
exon 4
c.612G>T
p.(Trp204Cys)
W204C G>T
Likely pathogenicTo be validated
 2019-07-112022-03-14
exon 4
c.620T>C
p.(Phe207Ser)
P207S
Not classifiedTo be validated
 2019-01-15 
exon 4
c.629delT
p.(Ile210Thrfs*57)
I210Tfs
Likely pathogenicTo be validated
 2019-11-08 
exon 4
c.634_636delTTC
p.(Phe212del)
F212del
Likely pathogenicTo be validated
 2019-11-082019-12-09
exon 4
c.650T>A
p.(Val217Asp)
V217D
Likely pathogenicTo be validated
 2020-04-022020-12-07
exon 4
c.660C>A
p.(Tyr220*)
Y220X
Likely pathogenicTo be validated
 2019-03-05 
exon 4
c.680_681delAT
p.(Tyr227Cysfs*27)
Y227fs
Likely pathogenicTo be validated
 2019-11-08 
exon 4
c.695T>C
p.(Met232Thr)
M232T
Likely pathogenicTo be validated
 2022-02-21 
exon 4
c.706_708del
p.(Tyr236del)
Y236del
Likely pathogenicTo be validated
 2019-03-06 
exon 4
c.709del
p.(Glu237Argfs*30)
c.709delC (p.Glu237fs)
Likely pathogenicTo be validated
 2021-08-26 
exon 4
c.712G>A
p.(Asp238Asn)
D238N
Likely pathogenicVALIDATED
 2017-04-272018-04-18
exon 4
c.714_738dup
p.(Ala247Glnfs*16)
A247Qfs*16
Not classifiedTo be validated
 2022-02-21 
exon 4
c.728T>G
p.(Met243Arg)
M243R
Likely pathogenicVALIDATED
 2017-04-27 
exon 4
c.731A>C
p.(Glu244Ala)
E244A
Likely pathogenicTo be validated
 2019-07-112022-02-28
exon 4
c.740C>T
p.(Ala247Val)
A247V
Uncertain significance (VUS)VALIDATED
 2017-01-152018-10-02
exon 4
c.746T>C
p.(Leu249Pro)
L249P
Likely pathogenicTo be validated
 2018-10-092023-09-25
exon 4
c.752C>T
p.(Pro251Leu)
P251L
Likely pathogenicVALIDATED
 2014-02-262014-03-11
exon 4
c.753G>A
p.(Pro251Pro)
P251P
Likely pathogenicVALIDATED
 2017-04-272020-03-02
intron 4
c.753+2T>A
p.?
753+2T>A
Not classifiedTo be validated
 2019-05-21 
intron 4
c.753+168_754-229_1081+139_1082-92del
p.(Val252Thrfs*7)
Del E5-6-7
PathogenicVALIDATED
 2018-03-292019-04-12
exon 5
c.781delinsCCATA
p.(Asp261Profs*2)
D261Pfs*2
Likely pathogenicTo be validated
 2019-03-052019-03-11
exon 5
c.791G>C
p.(Trp264Ser)
W264S
Likely pathogenicVALIDATED
 2014-02-262014-03-11
exon 5
c.792G>A
p.Trp264X
W264Ter
PathogenicTo be validated
 2022-10-072022-10-07
exon 5
c.794C>G
p.(Ser265*)
S265X
Likely pathogenicTo be validated
 2019-03-05 
exon 5
c.849T>G
p.(Phe283Leu)
F283L
Likely pathogenicTo be validated
 2023-02-25 
exon 5
c.872C>T
p.(Ser291Leu)
S291L
Likely pathogenicVALIDATED
 2017-04-272018-04-18
intron 5
c.882-2A>G
p.?
c.882-2A>G
Likely pathogenicTo be validated
 2019-07-11 
exon 6
c.916C>T
p.(Arg306*)
R306*
PathogenicVALIDATED
 2014-04-18 
exon 6
c.927G>A
p.(Met309Ile)
M309I
Likely benignVALIDATED
 2017-01-152018-10-02
exon 6
c.932T>G
p.(Leu311Arg)
L311R
Likely pathogenicTo be validated
 2019-07-11 
exon 6
c.934C>T
p.(Arg312*)
R312ter
Likely pathogenicVALIDATED
 2018-10-092018-10-22
exon 6
c.950C>T
p.(Thr317Met)
T317M
Likely benignTo be validated
 2019-07-222019-09-12
exon 6
c.962G>C
p.(Gly321Ala)
G321A
Likely pathogenicTo be validated
 2021-01-11 
exon 6
c.962G>A
p.(Gly321Glu)
G321E
Likely pathogenicVALIDATED
 2018-03-23 
intron 6
c.972+3A>G
p.?
c.972+3A>G
Likely pathogenicTo be validated
 2020-01-28 
intron 6
c.973-314_1081+352del
p.(Val325Thrfs*7)
V325Tfs*
Likely pathogenicTo be validated
 2022-08-102022-08-10
intron 6
c.973-69C>G
p.?
c.973-69C->G
Likely benignVALIDATED
 2017-12-142019-10-18
intron 6
c.973-2A>G
p.?
c.973-2A>G
Likely pathogenicVALIDATED
 2015-07-142021-02-04
intron 6
c.973-1G>A
p.?
c.973-1G>A
Likely pathogenicTo be validated
 2019-03-062019-03-06
exon 7
c.(972+359_973-153)_(1081+149_1082-200)del
p.(Val325Thrfs*7)
delEx7
PathogenicVALIDATED
 2014-09-242020-11-25
exon 7
c.(?_973)_(1081_?)dup
p.0
Dup Exon7
Likely pathogenicTo be validated
 2021-01-112021-01-11
exon 7
c.976G>A
p.(Gly326Arg)
G326V
Likely pathogenicTo be validated
 2022-02-21 
exon 7
c.982G>A
p.(Glu328Lys)
E328K
Likely pathogenicVALIDATED
 2017-04-27 
exon 7
c.984G>C
p.(Glu328Asp)
E328D
Likely pathogenicVALIDATED
 2018-10-092018-10-22
exon 7
c.985G>A
p.(Asp329Asn)
D329N
Likely pathogenicTo be validated
 2019-07-112022-03-14
exon 7
c.1004A>G
p.(His335Arg)
H335R
BenignVALIDATED
 2014-09-242014-10-06
exon 7
c.1031C>T
p.(Pro344Leu)
P344L
Likely pathogenicVALIDATED
 2018-10-092018-10-22
exon 7
c.1045G>A
p.(Val349Ile)
V349I
Likely benignVALIDATED
 2017-06-242018-10-02
exon 7
c.1052T>A
p.(Leu351Gln)
L351Q
Likely pathogenicTo be validated
 2019-05-212020-01-27
exon 7
c.1057T>C
p.(Tyr353His)
Y353H
Likely pathogenicTo be validated
 2019-04-04 
exon 7
c.1065C>A
p.(Phe355Leu)
F355L
Likely pathogenicVALIDATED
 2017-04-27 
exon 7
c.1069G>A
p.(Ala357Thr)
A357T
Likely pathogenicTo be validated
 2019-05-212020-01-27
exon 7
c.1072G>A
p.(Gly358Arg)
G358R
Likely pathogenicTo be validated
 2019-03-052019-05-22
exon 7
c.1078A>G
p.(Thr360Ala)
T119A
Likely pathogenicVALIDATED
 2014-08-012018-10-22
intron 7
c.1081+30C>A
p.?
c.1081+30C->A
Uncertain significance (VUS)VALIDATED
 2017-12-142019-10-18
intron 7
c.1081+139_1082-92del
p.?
c.(1081+139_1082-92)del
Likely pathogenicTo be validated
 2021-08-26 
intron 7
c.1081+1613_*8176del
p.(Asp361_Lys511delinsVal)
DelEx8-9-10
Not classifiedTo be validated
 2018-10-082019-05-22
exon 8
c.1110C>A
p.(Asn370Lys)
N370K
Likely pathogenicVALIDATED
 2017-04-272017-04-28
exon 8
c.1147G>A
p.(Gly383Ser)
G142S
Likely pathogenicVALIDATED
 2014-08-012018-10-22
exon 8
c.1148G>A
p.(Gly383Asp)
G383D
PathogenicTo be validated
 2020-08-282020-12-04
exon 8
c.1173C>G
p.(His391Gln)
H391Q
Likely pathogenicTo be validated
 2019-05-21 
exon 8
c.1196G>A
p.(Trp399*)
W399X
Likely pathogenicTo be validated
 2020-04-022020-04-02
exon 8
c.1213A>T
p.(Ile405Leu)
I405L
Not classifiedTo be validated
 2019-05-21 
exon 8
c.1223G>A
p.(Cys408Tyr)
C408Y
PathogenicVALIDATED
 2017-08-252017-09-27
exon 8
c.1225C>T
p.(Pro409Ser)
P409S
Likely pathogenicTo be validated
 2019-11-08 
exon 8
c.1226C>A
p.(Pro409His)
P409H
Likely pathogenicTo be validated
 2020-08-282020-12-04
intron 8
c.1240-5C>G
p.?
c.1240-5C>G
BenignVALIDATED
 2014-09-24 
exon 9
c.1240G>A
p.(Val414Met)
V372M
Likely pathogenicTo be validated
 2019-03-05 
exon 9
c.1269C>G
p.(Asn423Lys)
N423K
Likely pathogenicTo be validated
 2021-01-11 
exon 9
c.1273C>G
p.(Pro425Ala)
P425A
Likely pathogenicTo be validated
 2019-07-112022-03-14
exon 9
c.1303C>G
p.(Pro435Ala)
P435A
Likely pathogenicTo be validated
 2019-07-112022-03-14
exon 9
c.1307T>C
p.(Met436Thr)
M436T
Likely pathogenicTo be validated
 2023-02-25 
exon 9
c.1327C>G
p.(Pro443Ala)
P443A
PathogenicTo be validated
 2024-07-162024-08-12
exon 9
c.1334T>C
p.(Met445Thr)
M445T
Likely pathogenicTo be validated
 2023-02-25 
exon 9
c.1337T>C
p.(Phe446Ser)
F404S
Likely pathogenicTo be validated
 2019-03-05 
exon 9
c.1346_1347insTT
p.(Lys449Asnfs*2)
K449Nfs*2
Not classifiedTo be validated
 2020-01-28 
exon 9
c.1348G>T
p.(Gly450Cys)
G450C
Likely pathogenicVALIDATED
 2017-04-272018-04-18
exon 9
c.1352T>G
p.(Leu451Trp)
L451W
Likely pathogenicTo be validated
 2019-11-08 
exon 9
c.1353G>T
p.(Leu451Phe)
L451F
Likely pathogenicTo be validated
 2019-03-05 
exon 9
c.1358A>G
p.(Tyr453Cys)
Y453C
PathogenicVALIDATED
 2014-02-252014-03-11
exon 9
c.1359T>C
p.(Tyr453=)
Y453Y
BenignVALIDATED
 2014-09-242015-04-22
exon 9
c.1360G>C
p.(Asp454His)
D454H
Likely pathogenicTo be validated
 2019-11-08 
exon 9
c.1367A>G
p.(Tyr456Cys)
Y456C
Likely pathogenicVALIDATED
 2018-04-04 
exon 9
c.1373T>A
p.(Val458Asp)
V458D
Likely pathogenicVALIDATED
 2018-10-07 
exon 9
c.1379T>A
p.(Met460Lys)
p.(M460K)
Likely pathogenicTo be validated
 2023-02-09 
exon 9
c.1392dup
p.(Met465Aspfs*4)
M465fsX
Likely pathogenicTo be validated
 2019-11-082021-05-27
exon 9
c.1397_1403delAGGCTGA
p.(Lys466Thrfs*2)
K466Tfs*2
Not classifiedTo be validated
 2020-01-282021-03-13
exon 9
c.1435T>C
p.(Ser479Pro)
S479P
Uncertain significance (VUS)To be validated
 2019-07-16 
intron 9
c.1442+6T>C
p.?
1442+6T>C
Uncertain significance (VUS)To be validated
 2019-05-21 
intron 9
c.1442+11T>C
p.?
c.1442+11T>C
BenignVALIDATED
 2014-09-24 
intron 9
c.1442+31G>A
p.?
c.1442+31G>A
BenignVALIDATED
 2014-09-24 
intron 9
c.1443-2A>T
p.?
c.1443-2A>T
Not classifiedTo be validated
 2020-02-18 
exon 10
c.1445A>G
p.(Tyr482Cys)
Y482C
Likely pathogenicTo be validated
 2019-11-08 
exon 10
c.1447_1451del
p.(Ser483Profs*5)
S483Pfs*
Likely pathogenicTo be validated
 2021-08-26 
exon 10
c.1465G>C
p.(Glu489Gln)
E489Q
Uncertain significance (VUS)To be validated
 2020-05-22 
exon 10
c.1467G>C
p.(Glu489Asp)
E489D
Likely benignTo be validated
 2022-08-18 
exon 10
c.1502G>A
p.(Trp501*)
W501*
Likely pathogenicTo be validated
 2019-07-112022-02-28
3UT
c.*159G>A
p.?
*159G>A
Not classifiedTo be validated
 2019-05-21