APOB p.Arg931fs
c.2786dup · rs1553385404 · VCV440528
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
ultra-rare (gnomAD MAF 1.679e-06)
Conditions
1
hypercholesterolemia, familial, 1
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 18 of 29 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -1.2 | GERP -2.3 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
dbSNP / gnomAD
Global frequency
0.000168%
via dbSNP · ultra-rare
No ancestry breakdown or filtering allele frequency is available for this variant, so BA1/BS1 cannot be assessed from this figure alone.
Variant & gene context
- Gene
- APOB
- Protein
- p.Arg931fs
- Coding
- c.2786dup
- MANE Select
- NM_000384
- dbSNP
- rs1553385404
- Type
- Duplication
- Location
- chr2:21022860 (GRCh38)
- Gene constraint
- LOEUF 0.537 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
- Residue 931
- the 'heparin-binding' region
Similar variants
- APOB p.Arg3527Gln Pathogenic/Likely pathogenic ★★ ⚠ same condition
- APOB p.Arg3527Trp Pathogenic/Likely pathogenic ★★ ⚠ same condition
- APOB p.Gln1551Ter Pathogenic ★★ same condition
- APOB c.1352+60C>A Uncertain significance ★★ same condition
- APOB p.Ala3837Ser Uncertain significance ★★ ⚠ same condition
- APOB p.Ala527Val Uncertain significance ★★ ⚠ same condition
- APOB p.Arg4385Cys Uncertain significance ★★ ⚠ same condition
- APOB p.Asp4390His Uncertain significance ★★ ⚠ 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-arg931fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown