PCNT p.Arg420fs
c.1257dup · VCV4718323
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 8 of 47 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 2.5 | GERP 1.1, phastCons 0.12 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- PCNT
- Protein
- p.Arg420fs
- Coding
- c.1257dup
- MANE Select
- NM_006031
- Type
- Duplication
- Location
- chr21:46349732 (GRCh38)
- Gene constraint
- LOEUF 0.943 · pLI <0.01 (gnomAD)
Similar variants
- PCNT p.Arg420Cys Uncertain significance ★ ⚠ same residue
- PCNT p.Arg420His Uncertain significance ★ ⚠ same residue
- PCNT p.Ala2957fs Pathogenic ★★ same type
- PCNT p.Gln783fs Pathogenic ★★ same type
- PCNT p.Glu998fs Pathogenic/Likely pathogenic ★★ same type
- PCNT p.His2484fs Pathogenic/Likely pathogenic ★★ same type
- PCNT p.Leu1200fs Pathogenic/Likely pathogenic ★★ same type
- PCNT p.Val2138fs Pathogenic/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/pcnt-p-arg420fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown