FAM90A1
Chr 12family with sequence similarity 90 member A1
The FAM90A1 protein belongs to a primate-specific gene family that arose from multiple duplications and rearrangements, though its specific molecular function remains unclear. This gene is highly constrained against loss-of-function variants, but no human diseases have been definitively associated with FAM90A1 mutations to date.
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
159 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 | 36 | 0 | 36 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 91 | 4 | 0 | 95 |
Likely Benign | 0 | 6 | 2 | 2 | 10 |
Benign | 0 | 3 | 5 | 0 | 8 |
| Total | 0 | 100 | 49 | 2 | 151 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
FAM90A1 · 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
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools