CABS1
Chr 4calcium binding protein, spermatid associated 1
Also known as: C4orf35, CLPH, NYD-SP26
The CABS1 protein is a calcium-binding protein essential for maintaining the structural integrity of sperm flagella and is involved in sperm motility and spermatogenesis. Mutations cause Left ventricular noncompaction with intellectual disability, which follows an autosomal recessive inheritance pattern. This gene shows low constraint against loss-of-function variants (pLI = 0.008, LOEUF = 1.34), consistent with its recessive disease mechanism.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
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
91 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 | 21 | 0 | 21 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 51 | 9 | 0 | 60 |
Likely Benign | 0 | 5 | 3 | 0 | 8 |
Benign | 0 | 1 | 0 | 0 | 1 |
| Total | 0 | 57 | 34 | 0 | 91 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CABS1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools