C17ORF58
Chr 17chromosome 17 open reading frame 58
Located in collagen-containing extracellular matrix. [provided by Alliance of Genome Resources, Apr 2025]
Clinical Summary— C17ORF58
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Population Constraint (gnomAD)
Low constraint (pLI 0.19) — loss-of-function variants are relatively tolerated in the population.
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ClinVar Variants
12 Pathogenic / Likely Pathogenic· 1 VUS of 16 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.
1.57LOEUF
pLI 0.191
Z-score 0.94
OE 0.38 (0.13–1.57)
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.
0.13Z-score
OE missense 0.95 (0.76–1.20)
54 obs / 56.7 exp
Mild missense constraint
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.0.38 (0.13–1.57)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.95 (0.76–1.20)
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.0.80
0≤1.21.6
LoF obs/exp: 1 / 2.7Missense obs/exp: 54 / 56.7Syn Z: 0.74
ClinVar Variant Classifications
16 submitted variants in ClinVar
Classification Summary
Pathogenic11
Likely Pathogenic1
VUS1
Likely Benign2
Benign1
11
Pathogenic
1
Likely Pathogenic
1
VUS
2
Likely Benign
1
Benign
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 11 |
Likely Pathogenic | — | — | — | — | 1 |
VUS | — | — | — | — | 1 |
Likely Benign | — | — | — | — | 2 |
Benign | — | — | — | — | 1 |
| Total | — | 16 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
C17ORF58 · 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
"Deconstructing Allograft Adipose and Fascia Matrix to Treat Soft Tissue Defects: The Addition of Fascia Matrix to Adipose Matrix Improves Angiogenesis, Volume Retention and Adipogenesis in a Rodent Model"
Ziegler ME et al.·Plast Reconstr Surg
2023Functional
Candidate Genes in Testing Strategies for Linkage Analysis and Bioinformatic Sorting of Whole Genome Sequencing Data in Three Small Japanese Families with Idiopathic Superior Oblique Muscle Palsy
Matsuo T et al.·Int J Mol Sci
2022
Using publicly available datasets to identify population-based transcriptomic landscape contributing to the aggressiveness of breast cancer in young women
Tabbal M et al.·Front Genet
2023
Mitral valve transcriptome analysis in thirty-four age-matched Cavalier King Charles Spaniels with or without congestive heart failure caused by myxomatous mitral valve disease
Reimann MJ et al.·Mamm Genome
2023
Transcriptomic Analysis Identifies A Tolerogenic Dendritic Cell Signature
Robertson H et al.·Front Immunol
2021
Top 5 full-text resultsSearch PubTator3 ↗
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