CELSR1 p.Phe42fs
c.103_122dup · VCV3898672
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 |
|---|---|---|
| NMD | predicted | premature termination codon in exon 1 of 35 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 1.4 | GERP -0.053, phastCons 0.98 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- CELSR1
- Protein
- p.Phe42fs
- Coding
- c.103_122dup
- MANE Select
- NM_001378328
- Type
- Duplication
- Location
- chr22:46537048 (GRCh38)
- Gene constraint
- LOEUF 0.564 · pLI <0.01 (gnomAD)
Similar variants
- CELSR1 p.Asp2907fs Uncertain significance ★ same type
- CELSR1 p.Gly129_Ala130insThrGlyAlaArgLeuCysGly Conflicting classifications of pathogenicity ★ same type
- CELSR1 p.Pro1329_Thr1334dup Uncertain significance ★ same type
- CELSR1 p.Tyr1714fs Uncertain significance ★ same type
- CELSR1 p.Ile1708fs Pathogenic 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/celsr1-p-phe42fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown