PANK2 p.Ser375fs
c.1122dup · VCV4822912
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 | predicted | premature termination codon in exon 5 of 7 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 2.3 | GERP 1.9, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- PANK2
- Protein
- p.Ser375fs
- Coding
- c.1122dup
- MANE Select
- NM_001386393
- Type
- Duplication
- Location
- chr20:3916965 (GRCh38)
- Gene constraint
- LOEUF 1.115 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 73.99 · 1 PDB
- Residue 375
- a β-strand
Similar variants
- PANK2 p.Gln435fs Pathogenic/Likely pathogenic ★★ same type
- PANK2 p.Phe308fs Pathogenic/Likely pathogenic ★★ same type
- PANK2 c.1083-13dup Benign/Likely benign ★★ same type
- PANK2 c.1083-14_1083-9dup Benign ★★ same type
- PANK2 p.Arg176fs Pathogenic ★ same type
- PANK2 p.Asp107fs Pathogenic ★ same type
- PANK2 p.Asp347fs Pathogenic ★ same type
- PANK2 p.Cys202fs 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/pank2-p-ser375fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown