BBS4 p.Lys438Ter
c.1311_1312insT · VCV1324345
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
Consequence
nonsense (stop-gain)
predicted LoF
gnomAD v4.1
Rare
Conditions
1
Bardet-Biedl syndrome 4
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | nonsense (stop-gain) | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 15 of 16 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -0.5 | GERP -3.1, phastCons 0.033 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- BBS4
- Protein
- p.Lys438Ter
- Coding
- c.1311_1312insT
- MANE Select
- NM_033028
- Type
- Insertion
- Location
- chr15:72736824 (GRCh38)
- Gene constraint
- LOEUF 0.953 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 78.36 · 1 PDB
- Residue 438
- the 'required for localization to centrosomes' region
Disease context
Bardet-Biedl syndrome 4 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Bardet-Biedl syndrome (Orphanet):
- Inheritance
- Autosomal recessive, Oligogenic
- Onset
- Antenatal, Childhood, Infancy, Neonatal
- Prevalence
- 1-9 / 100 000 (Specific population)
Similar variants
- BBS4 p.Lys438Arg Uncertain significance ★ ⚠ same residue
- BBS4 c.332+2_332+3insTT Pathogenic/Likely pathogenic ★★ same condition
- BBS4 c.1064_1106+97del Pathogenic/Likely pathogenic ★★ same condition
- BBS4 c.1248+1G>A Pathogenic/Likely pathogenic ★★ same condition
- BBS4 c.1248+1G>T Pathogenic ★★ same condition
- BBS4 c.1248+2T>C Pathogenic/Likely pathogenic ★★ same condition
- BBS4 c.1249-2A>C Likely pathogenic ★★ same condition
- BBS4 c.157-2A>G 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/bbs4-p-lys438ter (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown