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.1473dup · p.Asn492Ter
PPM1D

In progress — classification not generated yet.

Gene
PPM1D
Transcript
NM_003620.3
HGVS · transcript:coding
NM_003620.3:c.1473dup
Consequence
N/A
exon NC_000017.10
GRCh38
chr17:60663206 A>AT
GRCh37
chr17:58740567 A>AT
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
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
gnomAD v4.1 screenshot
gnomAD v4.1
gnomAD v2.1 screenshot
gnomAD v2.1
v4.1
This variant is present in gnomAD v4.1 (AF= 0; MAF= 0.00000%, 0/1614190 alleles, homozygotes = 0) and has highest observed frequency in the African/African American population (AF= 0; MAF= 0.00000%, 0/75058 alleles, homozygotes = 0).
v2.1
Absent from gnomAD v2.1.
🇨🇦 CA
Absent from gnomAD-Canada v1.0.
Allele frequency by ancestry
three datasets · side by side
gnomAD v4.1
Absent · 0 / 1,614,190
0 hom
Not observed in any ancestry group.
+ 10 not observed (Remaining individuals, Admixed American, European (Finnish), Amish, East Asian, Middle Eastern, South Asian, Ashkenazi Jewish, African/African American, European (non-Finnish))
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 v4 ↗ gnomAD v2 ↗ gnomAD 🇨🇦 ↗
ClinVar screenshot
ClinVar
In progress — evidence not uploaded yet.
ClinVar ↗
SpliceAI screenshot
In silico
In progress — evidence not uploaded yet.
SpliceAI ↗
Functional / OncoKB screenshot
Functional Likely Oncogenic
In progress — evidence not uploaded yet.
OncoKB ↗
COSMIC screenshot
COSMIC
Cancer hotspots screenshot
Cancer hotspots
Somatic evidence Not in COSMIC / hotspots
COSMIC
In progress — evidence not uploaded yet.
Hotspots
This variant does not lie in a statistically significant hotspot.
COSMIC ↗ Hotspots ↗
Sources & reference links
8Sources
ClinVar
gnomAD v2.1
gnomAD v4.1
gnomAD-Canada
SpliceAI
OncoKB
COSMIC
Cancer hotspots
Triaged references · 5 PMIDs not cited in assessment
23907125 ↗ Genetic variants and mutations of PPM1D control the response to DNA damage. ONCOKB
24880341 ↗ Exome sequencing identifies somatic gain-of-function PPM1D mutations in brainstem gliomas. ONCOKB
25742468 ↗ Truncating mutations of PPM1D are found in blood DNA samples of lung cancer patients. ONCOKB
29954749 ↗ PPM1D-truncating mutations confer resistance to chemotherapy and sensitivity to PPM1D inhibition in hematopoietic cells. ONCOKB
30304655 ↗ Classification and Personalized Prognosis in Myeloproliferative Neoplasms. ONCOKB