PLCG2 (NM_002661.5) sequence variants

Editor(s): Michael OMBRELLO   

Home Page Variants list Sequences Download Useful links Statistics Build your graph Contact Submit a novel sequence variant Submit a novel complex allele
ADA2ADAM17ALPK1AP1S3CARD14CDC42CEBPECOPAELF4F12HCK
IKBKGIL1R1IL1RNIL36RNLACC1LPIN2LYN
MEFVMVKNCSTNNLRC4NLRP1NLRP12NLRP3NLRP7NOD2OTULIN
PLCG1PLCG2POMPPSMA3PSMB10PSMB4PSMB8PSMB9PSMG2PSTPIP1
RBCK1RELARIPK1SAMD9LSH3BP2SLC29A3STING1
TNFAIP3TNFRSF11ATNFRSF1ATRAP1TRNT1UBA1WDR1

🔎

Total current number of sequence variants for PLCG2 : 39

*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
exon 13
c.1177G>A
p.(Ala393Thr)
A393T
Uncertain significance (VUS)To be validated
 2023-07-28 
exon 27
c.3034C>G
p.(Leu1012Val)
L1012V
Uncertain significance (VUS)To be validated
 2023-05-03 
exon 18
c.1775T>G
p.(Met592Arg)
M592R
Uncertain significance (VUS)To be validated
 2023-03-03 
exon 4
c.415C>T
p.(Pro139Ser)
P139S
Uncertain significance (VUS)To be validated
 2023-03-03 
exon 14
c.1274T>C
p.(Phe425Ser)
P425S
Uncertain significance (VUS)To be validated
 2023-03-03 
exon 2
c.77C>T
p.(Thr26Met)
T26M
Uncertain significance (VUS)To be validated
 2023-03-03 
exon 30
c.3422T>A
p.(Met1141Lys)
M1141K
Likely pathogenicTo be validated
 2022-08-102022-08-10
exon 20
c.2224C>T
p.(Arg742Cys)
R742C
Uncertain significance (VUS)To be validated
 2022-06-29 
exon 20
c.2119T>C
p.(Ser707Pro)
S707P
Likely pathogenicTo be validated
 2022-02-212022-09-21
exon 2
c.62C>T
p.(Ala21Val)
A21V
Not classifiedTo be validated
 2021-05-27 
exon 29
c.3244T>C
p.(Cys1082Arg)
C1082R
Not classifiedTo be validated
 2021-01-11 
exon 31
c.3524T>A
p.(Ile1175Lys)
I1175K
Not classifiedTo be validated
 2021-01-11 
exon 27
c.2948C>T
p.(Thr983Ile)
T983I
Not classifiedTo be validated
 2021-01-11 
exon 20
c.2122G>C
p.(Ala708Pro)
A708P
PathogenicTo be validated
 2020-08-28 
exon 24
c.2533_2544del
p.(Leu845_Leu848del)
L845_L848del
PathogenicTo be validated
 2020-08-282020-12-04
exon 8
c.679G>A
p.(Val227Met)
V227M
Uncertain significance (VUS)To be validated
 2020-07-01 
exon 7
c.579C>G
p.(His193Gln)
H193Q
Uncertain significance (VUS)To be validated
 2020-04-022020-12-04
exon 27
c.2866C>T
p.(Arg956Cys)
R956C
Uncertain significance (VUS)To be validated
 2020-04-022020-12-04
exon 30
c.3388G>T
p.(Ala1130Ser)
A1130S
Uncertain significance (VUS)To be validated
 2019-07-16 
exon 9
c.731A>G
p.(His244Arg)
H244R
Likely benignTo be validated
 2019-07-16 
exon 2
c.82A>T
p.(Met28Leu)
M28L
Likely benignTo be validated
 2019-07-16 
exon 17
c.1712A>G
p.(Asn571Ser)
N571S
Likely benignTo be validated
 2019-07-16 
exon 10
c.802C>T
p.(Arg268Trp)
R268W
Likely benignTo be validated
 2019-07-16 
exon 7
c.647C>T
p.(Ser216Leu)
S216L
Uncertain significance (VUS)To be validated
 2019-07-16 
exon 15
c.1444T>C
p.(Tyr482His)
Y482H
Likely benignTo be validated
 2019-07-16 
exon 20
c.2161G>A
p.(Glu721Lys)
E721K
Uncertain significance (VUS)To be validated
 2019-07-112020-02-19
3UT
c.*35T>C
p.?
*35T>C
Not classifiedTo be validated
 2019-05-132019-05-29
intron 15
c.1468-1G>T
p.?
1468-1G>T
Likely pathogenicTo be validated
 2019-05-13 
exon 2
c.176A>G
p.(Asp59Gly)
D59G
Uncertain significance (VUS)To be validated
 2019-05-13 
exon 6
c.505A>G
p.(Ile169Val)
I169V
Uncertain significance (VUS)To be validated
 2019-05-13 
exon 16
c.1526T>C
p.(Ile509Thr)
I509T
Uncertain significance (VUS)To be validated
 2019-05-132019-05-29
exon 22
c.2393A>G
p.(Asn798Ser)
N798S
Not classifiedTo be validated
 2019-05-132021-05-27
exon 9
c.707C>T
p.(Pro236Leu)
P236L
Uncertain significance (VUS)To be validated
 2019-05-132019-05-14
exon 24
c.2543T>C
p.(Leu848Pro)
L848P
Not classifiedTo be validated
 2019-01-102019-09-05
exon 23
c.2497G>A
p.(Glu833Lys)
E833K
Not classifiedTo be validated
 2017-02-08 
exon 19
c.1935-322_2054+4100del
p.(Trp646_Arg685del)
del_Exon19_4.8kb
Not classifiedTo be validated
 2015-10-012019-03-11
exon 19
c.1935-521_2054+5385del
p.(Trp646_Arg685del)
del_Exon19_5.9kb
Not classifiedTo be validated
 2015-10-012019-03-11
exon 20
c.2055-1396_2417+2699del
p.(Ala686_Arg685del)
del_Exon20-22
Not classifiedTo be validated
 2015-10-012019-03-11
exon 20
c.2120C>A
p.(Ser707Tyr)
S707Y
Likely pathogenicTo be validated
 2012-12-072023-04-05