CHM p.Pro73fs
c.217_221del · VCV3249878
Pathogenic
No assertion criteria
Classification
Pathogenic
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
inherited retinal dystrophy
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 haploinsufficient gene (ClinGen) |
|---|---|---|
| NMD | predicted | premature termination codon in exon 4 of 15 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -4.2 | GERP -5.3 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- CHM
- Protein
- p.Pro73fs
- Coding
- c.217_221del
- MANE Select
- NM_000390
- Type
- Deletion
- Location
- chrX:85978860 (GRCh38)
- Structure
- AlphaFold pLDDT 81.05
Similar variants
- CHM p.Ser105Argfs Pathogenic ★★ same condition
- CHM p.Tyr551fs Pathogenic ★★ same condition
- CHM p.Pro73Ser Likely benign ★★ same residue
- CHM c.(116+1_117-1 Pathogenic ★ same condition
- CHM c.(1413+1_1414-1 Pathogenic ★ same condition
- CHM c.(1510+1_1511-1 Pathogenic ★ same condition
- CHM c.(314+1_315-1 Pathogenic ★ same condition
- CHM p.Asn170fs 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/chm-p-pro73fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown