ANK3 p.Pro204fs
c.611del · VCV4907514
Uncertain significance
Single submitter
Classification
Uncertain significance
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 LoF-intolerant gene |
|---|---|---|
| NMD | predicted | premature termination codon in exon 6 of 44 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -4.7 | GERP -3.2 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- ANK3
- Protein
- p.Pro204fs
- Coding
- c.611del
- MANE Select
- NM_020987
- Type
- Deletion
- Location
- chr10:60263923 (GRCh38)
- Gene constraint
- LOEUF 0.16 · pLI 1.00 (gnomAD)
Similar variants
- ANK3 p.Pro204= Likely benign ★★ same residue
- ANK3 p.Arg1456fs Pathogenic/Likely pathogenic ★★ same type
- ANK3 p.Glu4256_Ile4257delinsVal Uncertain significance ★★ same type
- ANK3 c.2614+6del Benign/Likely benign ★★ same type
- ANK3 c.4351-10del Benign ★★ same type
- ANK3 c.212_216+1del Likely pathogenic ★ same type
- ANK3 p.Ala1197fs Pathogenic ★ same type
- ANK3 p.Ala622fs Likely 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/ank3-p-pro204fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown