PHF8 p.Pro826fs
c.2477del · VCV4886472
Likely pathogenic
Single submitter
Classification
Likely 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 haploinsufficient gene (ClinGen) |
|---|---|---|
| NMD | predicted | premature termination codon in exon 19 of 22 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 3.3 | GERP 0.26, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- PHF8
- Protein
- p.Pro826fs
- Coding
- c.2477del
- MANE Select
- NM_015107
- Type
- Deletion
- Location
- chrX:53962906 (GRCh38)
- Structure
- AlphaFold pLDDT 63.30 · 6 PDB
Similar variants
- PHF8 p.Pro826Ser Uncertain significance ★ same residue
- PHF8 c.783+2del Likely pathogenic ★ same type
- PHF8 p.Leu819fs Likely pathogenic ★ same type
- PHF8 p.Lys155fs Pathogenic ★ same type
- PHF8 p.Lys833fs Likely pathogenic ★ same type
- PHF8 c.943_946+8del Pathogenic same type
- PHF8 p.Leu126fs Pathogenic same type
- PHF8 p.Lys627fs 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/phf8-p-pro826fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown