FAM171A1
Chr 10family with sequence similarity 171 member A1
Also known as: APCN, C10orf38
FAM171A1 encodes a plasma membrane protein that regulates cytoskeletal dynamics and actin stress fiber formation. The gene is highly constrained against loss-of-function variants (pLI 0.99, LOEUF 0.30), but no confirmed disease associations have been established. Mutations in this gene have not been definitively linked to human disease phenotypes.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
186 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 | 17 | 0 | 17 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 154 | 0 | 0 | 154 |
Likely Benign | 0 | 3 | 0 | 0 | 3 |
Benign | 0 | 0 | 1 | 0 | 1 |
| Total | 0 | 157 | 18 | 0 | 175 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
FAM171A1 · 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 →External Resources
Links to major genomics databases and tools