C9ORF152
Chr 9chromosome 9 open reading frame 152
Also known as: bA470J20.2
Clinical Summary— C9ORF152
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Population Constraint (gnomAD)
Low constraint (pLI 0.02) — loss-of-function variants are relatively tolerated in the population.
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ClinVar Variants
34 Pathogenic / Likely Pathogenic· 1 VUS of 38 total submissions
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.05LOEUF
pLI 0.018
Z-score 1.48
OE 0.46 (0.23–1.05)
Highly tolerant — LoF variants common in population
Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
-0.65Z-score
OE missense 1.16 (1.02–1.33)
147 obs / 126.5 exp
Tolerant to missense variation
Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.46 (0.23–1.05)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.16 (1.02–1.33)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.98
0≤1.21.6
LoF obs/exp: 4 / 8.7Missense obs/exp: 147 / 126.5Syn Z: 0.12
ClinVar Variant Classifications
38 submitted variants in ClinVar
Classification Summary
Pathogenic29
Likely Pathogenic5
VUS1
Likely Benign3
29
Pathogenic
5
Likely Pathogenic
1
VUS
3
Likely Benign
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 29 |
Likely Pathogenic | — | — | — | — | 5 |
VUS | — | — | — | — | 1 |
Likely Benign | — | — | — | — | 3 |
Benign | — | — | — | — | 0 |
| Total | — | 38 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
C9ORF152 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
An 8-Gene Signature for Classifying Major Subtypes of Non-Small-Cell Lung Cancer
Hamaneh M et al.·Cancer Inform
2022
Predicting Diabetic Retinopathy Using a Machine Learning Approach Informed by Whole-Exome Sequencing Studies.
She CY et al.·Biomed Environ Sci
2025
3Mont: A multi-omics integrative tool for breast cancer subtype stratification
Unlu Yazici M et al.·PLoS One
2025
Modeling hepatoblastoma development with human fetal liver organoids reveals YAP1 activation is sufficient for tumorigenesis
Yang L et al.·Protein Cell
2022Functional
Identification of Hub Genes and Pathways of Triple Negative Breast Cancer by Expression Profiles Analysis
Li L et al.·Cancer Manag Res
2021
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
Key factors mediated by PI3K signaling pathway and related genes in endometrial carcinoma.
Liu Z et al.·J Bioenerg Biomembr
2020
Top 1 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
No open access results found
Top 5 resultsSearch Europe PMC ↗
External Resources
Links to major genomics databases and tools