ZNF469 p.Asp1237fs
c.3707dup · VCV3647208
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 |
|---|---|---|
| NMD | escapes | premature termination codon in the last exon (3 of 3) — the truncated protein is likely expressed. PVS1 input, not an applied code |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -1.4 | GERP -2.1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- ZNF469
- Protein
- p.Asp1237fs
- Coding
- c.3707dup
- MANE Select
- NM_001367624
- Type
- Duplication
- Location
- chr16:88431173 (GRCh38)
- Gene constraint
- LOEUF 1.711 · pLI 0.26 (gnomAD)
- Residue 1237
- the 'disordered' region
Similar variants
- ZNF469 p.Ala1321fs Pathogenic/Likely pathogenic ★★ same type
- ZNF469 p.Cys1252fs Likely pathogenic ★★ same type
- ZNF469 p.His655fs Pathogenic ★★ same type
- ZNF469 p.Pro1373fs Pathogenic/Likely pathogenic ★★ same type
- ZNF469 p.254EP[3] Uncertain significance ★★ same type
- ZNF469 p.Arg3846fs Uncertain significance ★★ same type
- ZNF469 p.Arg3899fs Uncertain significance ★★ same type
- ZNF469 p.Gly2147_Gly2148insLeuGly 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/znf469-p-asp1237fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown