DYNLT5

Chr 1

dynein light chain Tctex-type family member 5

Also known as: TCTEX1D1

NCBI Gene: 200132ENSG00000152760UniProt: Q8N7M0

The protein is predicted to bind dynein intermediate chains and participate in microtubule-based transport as part of the cytoplasmic dynein complex. This gene is extremely intolerant to loss-of-function variants (pLI near 1.0), suggesting mutations would likely cause severe disease, but no specific genetic disorders have been definitively associated with DYNLT5 mutations to date. Any potential inheritance pattern remains to be established through future clinical cases.

Summary from RefSeq
Research Assistant →
0
Active trials
0
Pubs (1 yr)
23
P/LP submissions
0%
P/LP missense
1.57
LOEUF
DN
Mechanism· predicted
Clinical Summary— DYNLT5
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
23 unique Pathogenic / Likely Pathogenic· 33 VUS of 66 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
1.57LOEUF
pLI 0.000
Z-score 0.40
OE 0.85 (0.48–1.57)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.40Z-score
OE missense 0.89 (0.74–1.06)
87 obs / 98.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.85 (0.48–1.57)
0≤0.351.4
Missense OE0.89 (0.74–1.06)
0≤0.61.4
Synonymous OE1.21
0≤1.21.6
LoF obs/exp: 7 / 8.2Missense obs/exp: 87 / 98.1Syn Z: -0.92
DN
0.6938th %ile
GOF
0.6247th %ile
LOF
0.3841th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction 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

66 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic21
Likely Pathogenic2
VUS33
Likely Benign1
21
Pathogenic
2
Likely Pathogenic
33
VUS
1
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
21
0
21
Likely Pathogenic
0
0
2
0
2
VUS
0
27
6
0
33
Likely Benign
0
1
0
0
1
Benign
0
0
0
0
0
Total02829057

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

View in ClinVar →

Protein Context — Lollipop Plot

DYNLT5 · 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
Top 5 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