ERBIN p.Asp1292fs
c.3870_3873del · VCV4970591
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 23 of 26 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 6 | GERP 5.2, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- ERBIN
- Protein
- p.Asp1292fs
- Coding
- c.3870_3873del
- MANE Select
- NM_001253697
- Type
- Deletion
- Location
- chr5:66075136 (GRCh38)
- Gene constraint
- LOEUF 0.526 · pLI 0.72 (gnomAD)
- Structure
- AlphaFold pLDDT 56.01 · 11 PDB
Similar variants
- ERBIN c.4131+27del Benign/Likely benign ★★ same type
- ERBIN c.1021-3del Uncertain significance ★ same type
- ERBIN c.1307-7_1307-3del Uncertain significance ★ same type
- ERBIN c.1309_1313del5 Uncertain significance ★ same type
- ERBIN p.Asn632del Uncertain significance ★ same type
- ERBIN p.Asp755fs Uncertain significance ★ same type
- ERBIN p.Gln1320fs Uncertain significance ★ same type
- ERBIN p.Phe225fs Uncertain significance ★ same type
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/erbin-p-asp1292fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown