PUF60 p.Val299fs
c.894_895dup · VCV4085253
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 in a haploinsufficient gene (ClinGen) |
|---|---|---|
| NMD | predicted | premature termination codon in exon 9 of 12 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 11 | GERP 1.2, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- PUF60
- Protein
- p.Val299fs
- Coding
- c.894_895dup
- MANE Select
- NM_078480
- Type
- Duplication
- Location
- chr8:143817704 (GRCh38)
- Gene constraint
- LOEUF 0.295 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 69.21 · 16 PDB
- Residue 299
- the rrm 2 domain; the 'inhibits homodimerization' region; a β-strand; the 'inhibits transcriptional repression, interaction with ercc3 and apoptosis induction' region
Similar variants
- PUF60 p.Val299Glu Likely pathogenic ★★ same residue
- PUF60 p.Arg198fs Pathogenic ★★ same type
- PUF60 p.Arg298fs Pathogenic/Likely pathogenic ★★ same type
- PUF60 p.Glu524Ter Pathogenic ★★ same type
- PUF60 p.Ala25_Val26insAla Benign/Likely benign ★★ same type
- PUF60 p.Arg204fs Pathogenic ★ same type
- PUF60 p.Asp239fs Pathogenic ★ same type
- PUF60 p.Gln437fs 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/puf60-p-val299fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown