About PPM1D
No gene-level summary was recorded for this case.
Previous versions
Variant interpretation report
PPM1D c.1384C>T, p.(Gln462Ter)
Classification
Not classified
Variant description:
No variant summary was recorded for this case.
Five-step scale from benign to pathogenic. Select a step to read what it means.
Not classified yet.Select a step to read what it means.
In plain language
Gene-level background from the recorded interpretation.
Words with a dotted underline have a short definition. Hover or tap them.
LYFE Sciences is an AI system, and it can make mistakes.
Criteria may be applied incorrectly, sources may be misread, and a
confident-looking classification can still be wrong.
Double-check every criterion and its underlying evidence
before relying on any call.
01The reasoning
How it was classified
The recorded framework is Not recorded. The criteria and strengths shown below come from the saved assessment; this page does not recalculate the classification.
Recorded applied criteria
The applied criteria and their strengths are shown as assessed under the stated framework.
Pathogenic evidence criteria: 0
Benign evidence criteria: 0
Pathogenic criteria applied · 0
No pathogenic criterion marked as applied in the recorded assessment.
Benign criteria applied · 0
No benign criterion marked as applied in the recorded assessment.
Recorded classification: Not classified
In progress — classification not generated yet.
02The sources
Evidence at a glance
Evidence summaries and captured source records, where available. Missing entries should not be interpreted as negative findings.
No screenshot for this evidence
Population frequency
Not recorded
gnomAD v4.1 allele counts were not recorded for this variant.
gnomAD v2.1
In progress — evidence not uploaded yet.
gnomAD-Canada
In progress — evidence not uploaded yet.
No listed criterion applied
gnomAD-Canada ↗
No screenshot for this evidence
Computational predictions
Not recorded
No SpliceAI or REVEL score is recorded in the fields used for this tile.
No listed criterion applied
No screenshot for this evidence
ClinVar submissions
Not recorded
A ClinVar laboratory submission summary was not recorded.
Context only
No screenshot for this evidence
Functional evidence
Statement recorded
In progress — evidence not uploaded yet.
No listed criterion applied
No screenshot for this evidence
Somatic evidence
Not assessed
In progress — evidence not uploaded yet.
Cancer Hotspots
In progress — evidence not uploaded yet.
Context only
For specialists
Technical detail
ACMG/AMP criteria under Not recorded, with the data and sources behind each one.
28 criteria with recorded statuses: 0 met · 0 not met · 28 not assessed · 0 not applicable. Open any row for the full reasoning, the rule and the evidence behind it.
Met
Not met
Not assessed
Not applicable
No criteria match.
Not assessed · 28 · no assessment recorded
PVS1 No criterion-specific rationale recorded. Details ▾Hide ▴
No further detail was recorded.
PS1 No criterion-specific rationale recorded. Details ▾Hide ▴
No further detail was recorded.
PS2 No criterion-specific rationale recorded. Details ▾Hide ▴
No further detail was recorded.
PS3 No criterion-specific rationale recorded. Details ▾Hide ▴
No further detail was recorded.
PS4 No criterion-specific rationale recorded. Details ▾Hide ▴
No further detail was recorded.
PM1 No criterion-specific rationale recorded. Details ▾Hide ▴
No further detail was recorded.
PM2 No criterion-specific rationale recorded. Details ▾Hide ▴
No further detail was recorded.
PM3 No criterion-specific rationale recorded. Details ▾Hide ▴
No further detail was recorded.
PM4 No criterion-specific rationale recorded. Details ▾Hide ▴
No further detail was recorded.
PM5 No criterion-specific rationale recorded. Details ▾Hide ▴
No further detail was recorded.
PM6 No criterion-specific rationale recorded. Details ▾Hide ▴
No further detail was recorded.
PP1 No criterion-specific rationale recorded. Details ▾Hide ▴
No further detail was recorded.
PP2 No criterion-specific rationale recorded. Details ▾Hide ▴
No further detail was recorded.
PP3 No criterion-specific rationale recorded. Details ▾Hide ▴
No further detail was recorded.
PP4 No criterion-specific rationale recorded. Details ▾Hide ▴
No further detail was recorded.
PP5 No criterion-specific rationale recorded. Details ▾Hide ▴
No further detail was recorded.
BA1 No criterion-specific rationale recorded. Details ▾Hide ▴
No further detail was recorded.
BS1 No criterion-specific rationale recorded. Details ▾Hide ▴
No further detail was recorded.
BS2 No criterion-specific rationale recorded. Details ▾Hide ▴
No further detail was recorded.
BS3 No criterion-specific rationale recorded. Details ▾Hide ▴
No further detail was recorded.
BS4 No criterion-specific rationale recorded. Details ▾Hide ▴
No further detail was recorded.
BP1 No criterion-specific rationale recorded. Details ▾Hide ▴
No further detail was recorded.
BP2 No criterion-specific rationale recorded. Details ▾Hide ▴
No further detail was recorded.
BP3 No criterion-specific rationale recorded. Details ▾Hide ▴
No further detail was recorded.
BP4 No criterion-specific rationale recorded. Details ▾Hide ▴
No further detail was recorded.
BP5 No criterion-specific rationale recorded. Details ▾Hide ▴
No further detail was recorded.
BP6 No criterion-specific rationale recorded. Details ▾Hide ▴
No further detail was recorded.
BP7 No criterion-specific rationale recorded. Details ▾Hide ▴
No further detail was recorded.
Identifiers
- Gene
- PPM1D
- Transcript
- NM_003620.3
- Coding (HGVS c.)
- NM_003620.3:c.1384C>T
- Protein (HGVS p.)
- NP_003611.1:p.(Gln462Ter)
- GRCh38
- chr17:60663118 C>T
- GRCh37
- chr17:58740479 C>T
Gene diagram
Every interpreted variant in PPM1D, mapped onto the exon structure of NM_003620.3. Select a row to find it on the plot.
PPM1DNM_003620.3
Fetching transcript structure from UCSC…
Exons
—
Transcript span
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Strand
—
Variants mapped
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Source
UCSC ncbiRefSeqCurated
All variants in PPM1D
—
Select a row to find it on the plot; use the link to open its page.
| Protein | Location | Classification | Link |
|---|
gnomAD v4.1
Allele count data not recorded
gnomAD v2.1
Allele count data not recorded
gnomAD-Canada v1.0
0 / 0 alleles
AF 0 · 0 homozygotes · FAF 0
By genetic ancestry
gnomAD-Canada
AF 0 · 0 / 0 alleles · 0 hom
Statements
gnomAD v4.1
In progress — evidence not uploaded yet.
gnomAD v2.1
In progress — evidence not uploaded yet.
gnomAD-Canada
In progress — evidence not uploaded yet.
Other predictors
- REVEL
- Not available
- BayesDel
- Not available
How the predictions were used
PP3 No criterion-specific rationale recorded. Details ▾Hide ▴
No further detail was recorded.
BP4 No criterion-specific rationale recorded. Details ▾Hide ▴
No further detail was recorded.
BP7 No criterion-specific rationale recorded. Details ▾Hide ▴
No further detail was recorded.
Statement
In silico
In progress — evidence not uploaded yet.
0 paper records listed. No publication is explicitly linked to an applied criterion in the recorded metadata.
Statements for reports
The evidence statements recorded by the interpretation pipeline. They have not been reinterpreted by the page.
gnomAD v4.1
In progress — evidence not uploaded yet.
gnomAD v2.1
In progress — evidence not uploaded yet.
gnomAD-Canada
In progress — evidence not uploaded yet.
ClinVar
In progress — evidence not uploaded yet.
In silico
In progress — evidence not uploaded yet.
Functional
In progress — evidence not uploaded yet.
Somatic
In progress — evidence not uploaded yet.
Cancer Hotspots
In progress — evidence not uploaded yet.
Literature
In progress — evidence not uploaded yet.