PLCG2 (NM_002661.3) sequence variants

Editor(s): Ivona AKSENTIJEVICH   

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Total current number of sequence variants for PLCG2 : 21

*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 2
c.82A>T
p.(Met28Leu)
M28L
Likely benignTo be validated
 2019-07-16
exon 2
c.176A>G
p.(Asp59Gly)
D59G
Uncertain significance (VOUS)To be validated
 2019-05-13
exon 6
c.505A>G
p.(Ile169Val)
I169V
Uncertain significance (VOUS)To be validated
 2019-05-13
exon 7
c.647C>T
p.(Ser216Leu)
S216L
Uncertain significance (VOUS)To be validated
 2019-07-16
exon 9
c.707C>T
p.(Pro236Leu)
P236L
Uncertain significance (VOUS)To be validated
 2019-05-13
exon 9
c.731A>G
p.(His244Arg)
H244R
Likely benignTo be validated
 2019-07-16
exon 10
c.802C>T
p.(Arg268Trp)
R268W
Likely benignTo be validated
 2019-07-16
exon 15
c.1444T>C
p.(Tyr482His)
Y482H
Likely benignTo be validated
 2019-07-16
intron 15
c.1468-1G>T
p.?
1468-1G>T
Likely pathogenicTo be validated
 2019-05-13
exon 16
c.1526T>C
p.(Ile509Thr)
I509T
Uncertain significance (VOUS)To be validated
 2019-05-13
exon 17
c.1712A>G
p.(Asn571Ser)
N571S
Likely benignTo be validated
 2019-07-16
exon 19
c.1935-521_2054+5385del
p.(Trp646_Arg685del)
del_Exon19_5.9kb
Not classifiedTo be validated
 2015-10-01
exon 19
c.1935-322_2054+4100del
p.(Trp646_Arg685del)
del_Exon19_4.8kb
Not classifiedTo be validated
 2015-10-01
exon 20
c.2055-1396_2417+2699del
p.(Ala686_Arg685del)
del_Exon20-22
Not classifiedTo be validated
 2015-10-01
exon 20
c.2120C>A
p.(Ser707Tyr)
S707Y
Not classifiedTo be validated
 2012-12-07
exon 20
c.2161G>A
p.(Glu721Lys)
E721K
Likely pathogenicTo be validated
 2019-07-11
exon 22
c.2393A>G
p.(Asn798Ser)
N798S
Not classifiedTo be validated
 2019-05-13
exon 23
c.2497G>A
p.(Glu833Lys)
E833K
Not classifiedTo be validated
 2017-02-08
exon 24
c.2543T>C
p.(Leu848Pro)
L848P
Not classifiedTo be validated
 2019-01-10
exon 30
c.3388G>T
p.(Ala1130Ser)
A1130S
Uncertain significance (VOUS)To be validated
 2019-07-16
3UT
c.*35T>C
p.?
*35T>C
Not classifiedTo be validated
 2019-05-13