IFT172 p.Asp765fs
c.2293del · VCV4786481
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
2
short-rib thoracic dysplasia 10 with or without polydactyly
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 22 of 48 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7.9 | GERP 2.2, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- IFT172
- Protein
- p.Asp765fs
- Coding
- c.2293del
- MANE Select
- NM_015662
- Type
- Deletion
- Location
- chr2:27461418 (GRCh38)
- Gene constraint
- LOEUF 0.745 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 83.98 · 1 PDB
Similar variants
- IFT172 p.Asp765Asn Uncertain significance ★★ ⚠ same residue
- IFT172 p.Asp765Gly Uncertain significance ★ ⚠ same residue
- IFT172 p.Arg720fs Pathogenic/Likely pathogenic ★★ same condition
- IFT172 p.Glu359_Val360insTer Pathogenic/Likely pathogenic ★★ same condition
- IFT172 p.Leu818_Phe819insTer Pathogenic/Likely pathogenic ★★ same condition
- IFT172 p.Leu856fs Pathogenic/Likely pathogenic ★★ same condition
- IFT172 p.Thr624fs Pathogenic/Likely pathogenic ★★ same condition
- IFT172 p.Asn446del Uncertain significance ★★ 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/ift172-p-asp765fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown