APOB p.Arg1491fs
c.4473_4474del · VCV4851852
Pathogenic
Single submitter
Classification
Pathogenic
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 in a haploinsufficient gene (ClinGen) |
|---|---|---|
| NMD | predicted | premature termination codon in exon 26 of 29 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.76 | GERP -2.3, phastCons 0.009 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- APOB
- Protein
- p.Arg1491fs
- Coding
- c.4473_4474del
- MANE Select
- NM_000384
- Type
- Microsatellite
- Location
- chr2:21012394 (GRCh38)
- Gene constraint
- LOEUF 0.537 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
Similar variants
- APOB p.Arg1491Ter Likely pathogenic ★ same residue
- APOB p.Arg1491Gly Uncertain significance ★ ⚠ same residue
- APOB p.Leu2693fs Pathogenic/Likely pathogenic ★★ same type
- APOB p.Phe3039fs Pathogenic/Likely pathogenic ★★ same type
- APOB c.1830-15CTT[2] Uncertain significance ★★ same type
- APOB p.9LAL[3] Uncertain significance ★★ same type
- APOB p.Ile2202del Uncertain significance ★★ same type
- APOB p.Leu22dup 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/apob-p-arg1491fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown