C17ORF50

Chr 17

chromosome 17 open reading frame 50

NCBI Gene: 146853ENSG00000270806UniProt: Q8WW18
0
Active trials
6
Pathogenic / LP
16
ClinVar variants
0
Pubs (1 yr)
-0.3
Missense Z
1.90
LOEUF
Clinical Summary— C17ORF50
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
6 Pathogenic / Likely Pathogenic· 10 VUS of 16 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.90LOEUF
pLI 0.000
Z-score -0.74
OE 1.32 (0.75–1.90)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.31Z-score
OE missense 1.10 (0.93–1.30)
92 obs / 83.9 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE1.32 (0.75–1.90)
0≤0.351.4
Missense OE1.10 (0.93–1.30)
0≤0.61.4
Synonymous OE1.05
0≤1.21.6
LoF obs/exp: 8 / 6.0Missense obs/exp: 92 / 83.9Syn Z: -0.26

ClinVar Variant Classifications

16 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic6
VUS10
6
Pathogenic
10
VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
6
0
6
Likely Pathogenic
0
0
0
0
0
VUS
0
7
3
0
10
Likely Benign
0
0
0
0
0
Benign
0
0
0
0
0
Total079016

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

View in ClinVar →

C17ORF50 · 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 →
Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 3 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Top 5 resultsSearch Europe PMC ↗

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