C3ORF80

Chr 3

chromosome 3 open reading frame 80

NCBI Gene: 401097ENSG00000180044UniProt: F5H4A9

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
LOEUF 1.58
Clinical Summary— C3ORF80
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.19) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
1 VUS of 2 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.58LOEUF
pLI 0.190
Z-score 0.93
OE 0.38 (0.13–1.58)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.40Z-score
OE missense 0.86 (0.69–1.08)
53 obs / 61.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.38 (0.13–1.58)
0≤0.351.4
Missense OE?0.86 (0.69–1.08)
0≤0.61.4
Synonymous OE?1.28
0≤1.21.6
LoF obs/exp: 1 / 2.6Missense obs/exp: 53 / 61.9Syn Z: -1.18

ClinVar Variant Classifications

2 submitted variants in ClinVar

ClinVar

Classification Summary

VUS1
Likely Benign1
1
VUS
1
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
0
0
0
Likely Pathogenic
0
0
0
0
0
VUS
0
1
0
0
1
Likely Benign
0
0
0
1
1
Benign
0
0
0
0
0
Total01012

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

21 pathogenic / likely-pathogenic (of 24) ClinVar copy-number / structural variants overlap C3ORF80 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →

Protein Context — Lollipop Plot

C3ORF80 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients