SERPINB5
Chr 18serpin family B member 5
Also known as: PI5, maspin
The protein functions as a tumor suppressor that blocks growth, invasion, and metastatic properties of mammary tumors, though it lacks serine protease inhibitory activity despite its serpin classification. Mutations in this gene have not been established to cause any recognized Mendelian neurological or developmental disorders. The gene shows tolerance to loss-of-function variants (pLI = 0.004, LOEUF = 0.903), suggesting heterozygous loss alone may not be sufficient to cause disease.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
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
158 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 | 87 | 0 | 87 |
Likely Pathogenic | 0 | 0 | 7 | 0 | 7 |
VUS | 0 | 46 | 7 | 0 | 53 |
Likely Benign | 0 | 0 | 0 | 0 | 0 |
Benign | 0 | 0 | 2 | 0 | 2 |
| Total | 0 | 46 | 103 | 0 | 149 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SERPINB5 · 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