ERBIN p.Ser6fs
c.14dup · rs2546608990 · VCV2689030
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 3 of 26 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 1.8 | phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- ERBIN
- Protein
- p.Ser6fs
- Coding
- c.14dup
- MANE Select
- NM_001253697
- dbSNP
- rs2546608990
- Type
- Duplication
- Location
- chr5:65992731 (GRCh38)
- Gene constraint
- LOEUF 0.526 · pLI 0.72 (gnomAD)
- Structure
- AlphaFold pLDDT 56.01 · 11 PDB
Similar variants
- ERBIN p.Ser6Asn Uncertain significance ★ ⚠ same residue
- ERBIN c.4131+27dup Benign ★★ same type
- ERBIN c.477-10dup Benign/Likely benign ★★ same type
- ERBIN p.Ala754fs Uncertain significance ★ same type
- ERBIN p.Asp635fs Uncertain significance ★ same type
- ERBIN p.Gln335fs Uncertain significance ★ same type
- ERBIN p.Met612_Arg613insLeu Uncertain significance ★ same type
- ERBIN p.Thr1216fs 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-ser6fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown