TACC3
Chr 4transforming acidic coiled-coil containing protein 3
Also known as: ERIC-1, ERIC1, Tacc4, maskin
The protein functions in mitotic spindle stabilization and microtubule-dependent coupling of the nucleus and centrosome, playing a critical role in centrosome-mediated interkinetic nuclear migration of neural progenitors. Mutations cause autosomal recessive microcephaly, seizures, and developmental delay, typically presenting in infancy with severe intellectual disability and cortical malformations. The gene shows relatively low constraint to loss-of-function variation, consistent with its recessive inheritance pattern.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
The highest-scoring mechanism for this gene is dominant-negative.
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
382 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 136 | 0 | 136 |
Likely Pathogenic | 0 | 0 | 8 | 0 | 8 |
VUS | 0 | 163 | 15 | 0 | 178 |
Likely Benign | 0 | 8 | 3 | 1 | 12 |
Benign | 0 | 3 | 3 | 3 | 9 |
| Total | 0 | 174 | 165 | 4 | 343 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
TACC3 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
A Study of Erdafitinib in Participants With Advanced Solid Tumors and Fibroblast Growth Factor Receptor (FGFR) Gene Alterations
ACTIVE NOT RECRUITINGOxidative Phosphorylation Targeting In Malignant Glioma Using Metformin Plus Radiotherapy Temozolomide
RECRUITINGExternal Resources
Links to major genomics databases and tools