PIGN p.His482fs
c.1444dup · VCV4880642
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 |
|---|---|---|
| NMD | predicted | premature termination codon in exon 17 of 31 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -4.6 | GERP -4.2 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- PIGN
- Protein
- p.His482fs
- Coding
- c.1444dup
- MANE Select
- NM_176787
- Type
- Duplication
- Location
- chr18:62109963 (GRCh38)
- Gene constraint
- LOEUF 1.46 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 88.33
Similar variants
- PIGN p.His482Arg Uncertain significance ★ ⚠ same residue
- PIGN p.Ala273fs Pathogenic/Likely pathogenic ★★ same type
- PIGN p.Gly800fs Pathogenic ★★ same type
- PIGN p.Leu499fs Pathogenic/Likely pathogenic ★★ same type
- PIGN p.Met328fs Pathogenic/Likely pathogenic ★★ same type
- PIGN c.1116+12dup Benign/Likely benign ★★ same type
- PIGN c.2577-13dup Benign/Likely benign ★★ same type
- PIGN c.2620-17_2620-15dup Likely benign ★★ 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/pign-p-his482fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown