TTC34

Chr 1

tetratricopeptide repeat domain 34

NCBI Gene: 100287898ENSG00000215912UniProt: A8MYJ7
0
Active trials
2
Pubs (1 yr)
119
P/LP submissions
0%
P/LP missense
1.65
LOEUF
GOF
Mechanism· predicted
Clinical Summary— TTC34
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
114 unique Pathogenic / Likely Pathogenic· 153 VUS of 296 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
1.65LOEUF
pLI 0.000
Z-score -0.29
OE 1.08 (0.72–1.65)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.27Z-score
OE missense 0.96 (0.87–1.05)
295 obs / 308.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE1.08 (0.72–1.65)
0≤0.351.4
Missense OE0.96 (0.87–1.05)
0≤0.61.4
Synonymous OE0.86
0≤1.21.6
LoF obs/exp: 15 / 13.9Missense obs/exp: 295 / 308.3Syn Z: 1.29
DN
0.6064th %ile
GOF
0.74top 25%
LOF
0.3260th %ile

The highest-scoring mechanism for this gene is gain-of-function.

GOFprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

296 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic112
Likely Pathogenic2
VUS153
Likely Benign16
Benign6
Conflicting1
112
Pathogenic
2
Likely Pathogenic
153
VUS
16
Likely Benign
6
Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
112
0
112
Likely Pathogenic
0
0
2
0
2
VUS
0
126
27
0
153
Likely Benign
0
10
3
3
16
Benign
0
0
6
0
6
Conflicting
—1
Total01361503290

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

View in ClinVar →

Protein Context — Lollipop Plot

TTC34 · 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
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Development of a BiAD Sensor for Locus-Specific Detection of Cellular Histone Acetylation Dynamics by Fluorescence Microscopy.
Köhler AR et al.·Genes (Basel)
2025
Polystyrene nanoplastics affect transcriptomic and epigenomic signatures of human fibroblasts and derived induced pluripotent stem cells: Implications for human health.
Stojkovic M et al.·Environ Pollut
2023
Proteomics and transcriptome reveal the key transcription factors mediating the protection of Panax notoginseng saponins (PNS) against cerebral ischemia/reperfusion injury.
Zhang J et al.·Phytomedicine
2021
The genetic variant rs55986091 HLA-DQB1 is associated with a protective effect against cervical cancer
Vinokurov MA et al.·Front Oncol
2023
DNA Methylation and Prospects for Predicting the Therapeutic Effect of Neoadjuvant Chemotherapy for Triple-Negative and Luminal B Breast Cancer
Sigin VO et al.·Cancers (Basel)
2023
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 1 results · since 2015Search PubMed ↗
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