APOB p.Lys1982fs
c.5943dup · VCV4533252
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
hypercholesterolemia, autosomal dominant, type B
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 5.1 | GERP 0.7, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- APOB
- Protein
- p.Lys1982fs
- Coding
- c.5943dup
- MANE Select
- NM_000384
- Type
- Duplication
- Location
- chr2:21010924 (GRCh38)
- Gene constraint
- LOEUF 0.537 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
Similar variants
- APOB p.Asn3211fs Pathogenic ★★ same condition
- APOB p.Tyr4380Ter Uncertain significance ★★ same condition
- APOB c.12088-23dup Benign/Likely benign ★★ same condition
- APOB p.Arg3391fs Pathogenic ★ same condition
- APOB p.Asn2865fs Pathogenic ★ same condition
- APOB p.Ile4194fs Likely pathogenic ★ same condition
- APOB p.Phe2845fs Pathogenic ★ same condition
- APOB p.Pro3061fs Pathogenic ★ same condition
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-lys1982fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown