Classification rationale
In progress — classification not generated yet.
No rationale recorded.
PPM1D
Final classification
In progress — classification not generated yet.
PPM1D c.1384C>T · p.Gln462Ter
PPM1D
In progress — classification not generated yet.
In progress — classification not generated yet.
Gene diagram
· NM_003620.3 · variants mapped to exon structure
PPM1D
NM_003620.3
Fetching transcript structure from UCSC…
Applied criteria · 0 applied · 28 assessed
Applied · 0
No criteria were applied for this variant.
Assessed · not applied
Pathogenic
PVS1
PS1
PS2
PS3
PS4
PM1
PM2
PM3
PM4
PM5
PM6
PP1
PP2
PP3
PP4
PP5
Benign
BA1
BS1
BS2
BS3
BS4
BP1
BP2
BP3
BP4
BP5
BP6
BP7
Research & evidence
Population frequency
v4.1
In progress — evidence not uploaded yet.
v2.1
In progress — evidence not uploaded yet.
🇨🇦 CA
In progress — evidence not uploaded yet.
Allele frequency by ancestry
three datasets · side by side
gnomAD v4.1
Absent
· 0 / ?
0 hom
0 hom
Not observed in any ancestry group.
gnomAD v2.1
Absent
· 0 / ?
0 hom
0 hom
Not observed in any ancestry group.
gnomAD Canada 🇨🇦
Absent
· 0 / ?
0 hom
0 hom
Not observed in any ancestry group.
ClinVar
In progress — evidence not uploaded yet.
In silico
In progress — evidence not uploaded yet.
Functional
In progress — classification not generated yet.
In progress — evidence not uploaded yet.
Somatic evidence
COSMIC
In progress — evidence not uploaded yet.
Hotspots
In progress — evidence not uploaded yet.
Sources & reference links
No sources recorded.