Analysis in progress
Initialising…
0%
complete
This report is still being assembled — sections appear as each stage finishes. It isn't final yet.
PPM1D
Final classification
In progress — classification not generated yet.
PPM1D
c.1384C>T
p.Gln462Ter
· exon NC_000017.10
This variant

In progress — classification not generated yet.

Transcript
NM_003620.3
HGVS · transcript:coding
NM_003620.3:c.1384C>T
GRCh38
chr17:60663118 C>T
GRCh37
chr17:58740479 C>T
Basis In progress — classification not generated yet. ▾
In progress — classification not generated yet.
Classification rationale
In progress — classification not generated yet.

No rationale recorded.

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
MetEvidence satisfies this criterion.
Not metEvaluated against available evidence; threshold not reached.
Not assessedApplies in principle, but no evidence was found to evaluate it.
N/ADoesn't apply to this variant type.
Applied · 0

No criteria were applied for this variant.

Assessed · not applied · 0 not met · 28 not assessed
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
Not observed in any ancestry group.
gnomAD v2.1
Absent · 0 / ?
0 hom
Not observed in any ancestry group.
gnomAD Canada 🇨🇦
Absent · 0 / ?
0 hom
Not observed in any ancestry group.
gnomAD 🇨🇦 ↗
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.