AHDC1 p.Phe855fs
c.2565del · VCV4294432
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
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 8 of 9 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7.6 | GERP 2.2, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- AHDC1
- Protein
- p.Phe855fs
- Coding
- c.2565del
- MANE Select
- NM_001371928
- Type
- Deletion
- Location
- chr1:27549551 (GRCh38)
- Gene constraint
- LOEUF 0.168 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 38.82
- Residue 855
- a UniProt-annotated variant site (in xigis); a UniProt-annotated variant site (in xigis; impaired nuclear localization)
Similar variants
- AHDC1 p.Lys494fs Pathogenic ★★ same condition
- AHDC1 p.Met478fs Pathogenic/Likely pathogenic ★★ same condition
- AHDC1 p.Ser850fs Pathogenic ★★ same condition
- AHDC1 p.Thr1079_Ala1081del Benign/Likely benign ★★ same condition
- AHDC1 p.Ala1021fs Pathogenic ★ same condition
- AHDC1 p.Ala1432fs Likely pathogenic ★ same condition
- AHDC1 p.Ala1514fs Pathogenic ★ same condition
- AHDC1 p.Ala649fs 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/ahdc1-p-phe855fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown