GHSR p.Ser233fs
c.698del · VCV4532615
Uncertain significance
Single submitter
Classification
Uncertain significance
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 |
|---|---|---|
| NMD | predicted | premature termination codon in exon 1 of 2 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.68 | GERP -3.5, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- GHSR
- Protein
- p.Ser233fs
- Coding
- c.698del
- MANE Select
- NM_198407
- Type
- Deletion
- Location
- chr3:172447716 (GRCh38)
- Gene constraint
- LOEUF 1.033 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 81.75 · 10 PDB
- Residue 233
- an α-helix
Similar variants
- GHSR p.Met264fs Uncertain significance ★★ same type
- GHSR p.Phe12fs Uncertain significance ★★ same type
- GHSR p.Phe279fs Uncertain significance ★★ same type
- GHSR p.Thr64fs Uncertain significance ★★ same type
- GHSR c.796+1039_830del Uncertain significance ★ same type
- GHSR p.Gly293fs Uncertain significance ★ same type
- GHSR p.Ser349fs Uncertain significance ★ same type
- GHSR p.Gln36del Likely benign ★ 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/ghsr-p-ser233fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown