STAT5A
Chr 17signal transducer and activator of transcription 5A
Also known as: MGF, STAT5
STAT5A encodes a transcription factor that mediates cellular responses to cytokines and growth factors including interleukins, growth hormone, and erythropoietin by translocating to the nucleus upon phosphorylation and activating target gene transcription. Pathogenic variants cause autosomal recessive growth hormone insensitivity syndrome, resulting in severe growth failure and immune dysfunction. The mechanism involves loss of STAT5A-mediated transcriptional activation downstream of growth hormone and cytokine receptors.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
97 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 | 6 | 0 | 6 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 1 | 66 | 1 | 0 | 68 |
Likely Benign | 0 | 3 | 0 | 0 | 3 |
Benign | 0 | 1 | 1 | 4 | 6 |
| Total | 1 | 70 | 8 | 4 | 83 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
STAT5A · 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