CPLANE1 p.Leu2341fs
c.7020dup · rs2150932899 · VCV1332773
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 34 of 53 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.67 | GERP -1.5 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- CPLANE1
- Protein
- p.Leu2341fs
- Coding
- c.7020dup
- MANE Select
- NM_001384732
- dbSNP
- rs2150932899
- Type
- Duplication
- Location
- chr5:37169003 (GRCh38)
- Gene constraint
- LOEUF 0.728 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Residue 2341
- a UniProt-annotated variant site (in ofd6; likely pathogenic)
Similar variants
- CPLANE1 p.Asn1339Ter Pathogenic/Likely pathogenic ★★ same condition
- CPLANE1 p.Asp1467fs Pathogenic/Likely pathogenic ★★ same condition
- CPLANE1 p.Cys1277fs Pathogenic/Likely pathogenic ★★ same condition
- CPLANE1 p.His3148fs Likely pathogenic ★★ same condition
- CPLANE1 p.Ile2119fs Pathogenic/Likely pathogenic ★★ same condition
- CPLANE1 p.Ile980fs Pathogenic/Likely pathogenic ★★ same condition
- CPLANE1 p.Leu1386fs Pathogenic/Likely pathogenic ★★ same condition
- CPLANE1 p.Met1958fs Pathogenic/Likely 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/cplane1-p-leu2341fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown