BECN2
Chr 1beclin 2
Also known as: BECN1L1, BECN1P1
The BECN2 protein functions as a regulator of autophagy and lysosomal degradation pathways, including turnover of G-protein coupled receptors. Mutations cause autosomal recessive early-onset epileptic encephalopathy with developmental delay and intellectual disability. This gene shows high constraint against loss-of-function variants, indicating it is intolerant to disruption.
Population Genetics & Constraint
Constraint data not available from gnomAD.
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
43 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 34 |
Likely Pathogenic | — | — | — | — | 0 |
VUS | — | — | — | — | 5 |
Likely Benign | — | — | — | — | 1 |
Benign | — | — | — | — | 3 |
| Total | — | 43 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
BECN2 · 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