ANK1 p.Ser1447fs
c.4340_4355del · VCV4086076
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
hereditary spherocytosis type 1
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 36 of 43 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 3.9 | GERP -0.35, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- ANK1
- Protein
- p.Ser1447fs
- Coding
- c.4340_4355del
- MANE Select
- NM_000037
- Type
- Deletion
- Location
- chr8:41686187 (GRCh38)
- Gene constraint
- LOEUF 0.299 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 69.64 · 21 PDB
- Residue 1447
- an α-helix; the death domain; the '55 kda regulatory domain' region
Disease context
hereditary spherocytosis type 1 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Hereditary spherocytosis (Orphanet):
- Inheritance
- Autosomal dominant, Autosomal recessive
- Onset
- All ages
- Prevalence
- 1-5 / 10 000 (Germany)
Similar variants
- ANK1 p.Ser1447= Conflicting classifications of pathogenicity ★ same residue
- ANK1 p.Ala1605fs Likely pathogenic ★★ same condition
- ANK1 p.Ala461fs Likely pathogenic ★★ same condition
- ANK1 p.Arg1137fs Pathogenic/Likely pathogenic ★★ same condition
- ANK1 p.Asn756fs Likely pathogenic ★★ same condition
- ANK1 p.Cys1216_Pro1217insTer Pathogenic/Likely pathogenic ★★ same condition
- ANK1 p.Gln471fs Likely pathogenic ★★ same condition
- ANK1 p.Gly1459fs 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/ank1-p-ser1447fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown