CHD1 p.Pro1297fs
c.3888dup · VCV4088180
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 in a LoF-intolerant gene |
|---|---|---|
| NMD | predicted | premature termination codon in exon 29 of 36 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 12 | GERP 1.9, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- CHD1
- Protein
- p.Pro1297fs
- Coding
- c.3888dup
- MANE Select
- NM_001270
- Type
- Duplication
- Location
- chr5:98870776 (GRCh38)
- Gene constraint
- LOEUF 0.207 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 62.63 · 18 PDB
Similar variants
- CHD1 p.Glu65Ter Pathogenic ★ same type
- CHD1 p.Ser215fs Likely pathogenic ★ same type
- CHD1 p.Ser705fs Likely pathogenic ★ same type
- CHD1 c.4108-554dup Uncertain significance ★ same type
- CHD1 p.Arg1682fs Uncertain significance ★ same type
- CHD1 p.Asn587fs Uncertain significance ★ same type
- CHD1 p.Gln722fs Uncertain significance ★ same type
- CHD1 p.Glu1321fs Uncertain significance ★ 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/chd1-p-pro1297fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown