PAX2 p.Pro271fs
c.812del · VCV4531442
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
focal segmental glomerulosclerosis 7
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 7 of 10 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7.9 | GERP 1.8, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- PAX2
- Protein
- p.Pro271fs
- Coding
- c.812del
- MANE Select
- NM_000278
- Type
- Deletion
- Location
- chr10:100809127 (GRCh38)
- Gene constraint
- LOEUF 0.451 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 61.52
Similar variants
- PAX2 p.Pro271Arg Uncertain significance ★ ⚠ same residue
- PAX2 p.Pro271Ser Uncertain significance ★ ⚠ same residue
- PAX2 p.Gln264fs Pathogenic/Likely pathogenic ★★ same condition
- PAX2 p.Gly162fs Pathogenic/Likely pathogenic ★★ same condition
- PAX2 p.Pro290fs Likely pathogenic ★★ same condition
- PAX2 p.Val26fs Pathogenic ★★ same condition
- PAX2 p.Thr92_Val96del Uncertain significance ★★ same condition
- PAX2 p.Gln39fs 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/pax2-p-pro271fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown