CHM p.Pro6fs
c.17del · VCV4951930
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
CHM-related disorders
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 1 of 15 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 2.7 | GERP -0.66, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- CHM
- Protein
- p.Pro6fs
- Coding
- c.17del
- MANE Select
- NM_000390
- Type
- Deletion
- Location
- chrX:86047516 (GRCh38)
- Structure
- AlphaFold pLDDT 81.05
Disease context
CHM-related disorders
Similar variants
- CHM p.Ala455fs Pathogenic ★★ same condition
- CHM p.Asn538fs Pathogenic/Likely pathogenic ★★ same condition
- CHM p.Glu177fs Pathogenic ★★ same condition
- CHM p.Glu322_Tyr323insTer Pathogenic ★★ same condition
- CHM p.Glu81fs Pathogenic ★★ same condition
- CHM p.Ile79fs Pathogenic/Likely pathogenic ★★ same condition
- CHM p.Leu365fs Pathogenic ★★ same condition
- CHM p.Met196fs 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/chm-p-pro6fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown