C3ORF70

Chr 3

chromosome 3 open reading frame 70

NCBI Gene: 285382ENSG00000187068UniProt: A6NLC5

Predicted to be involved in circadian behavior and nervous system development. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
LOEUF 1.59
Clinical Summary— C3ORF70
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
4 VUS of 8 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?
1.59LOEUF
pLI 0.000
Z-score 0.35
OE 0.87 (0.49–1.59)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.08Z-score
OE missense 1.02 (0.89–1.17)
139 obs / 136.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.87 (0.49–1.59)
0≤0.351.4
Missense OE?1.02 (0.89–1.17)
0≤0.61.4
Synonymous OE?1.20
0≤1.21.6
LoF obs/exp: 7 / 8.1Missense obs/exp: 139 / 136.3Syn Z: -1.21

ClinVar Variant Classifications

8 submitted variants in ClinVar

ClinVar

Classification Summary

VUS4
4
VUS

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
4
0
0
4
Likely Benign
0
0
0
0
0
Benign
0
0
0
0
0
Total04004

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

View in ClinVar →

43 pathogenic / likely-pathogenic (of 45) ClinVar copy-number / structural variants overlap C3ORF70 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →

Protein Context — Lollipop Plot

C3ORF70 · 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