FANCD2OS
Chr 3FANCD2 opposite strand
Also known as: C3orf24
This gene encodes a protein that reduces testosterone levels by inhibiting steroidogenic enzymes and promoting apoptosis in Leydig cells. Clinical significance of mutations in FANCD2OS in pediatric neurogenetics is not well established based on the available functional data. The gene shows tolerance to loss-of-function variation with low constraint scores.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
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
600 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 | 25 | 0 | 21 | 0 | 46 |
Likely Pathogenic | 44 | 0 | 4 | 0 | 48 |
VUS | 6 | 186 | 35 | 3 | 230 |
Likely Benign | 0 | 2 | 130 | 102 | 234 |
Benign | 0 | 0 | 22 | 0 | 22 |
Conflicting | — | 9 | |||
| Total | 75 | 188 | 212 | 105 | 589 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
FANCD2OS · 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