RHBDF2 p.Ser262Asp
c.784_785inv · VCV2678386
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
palmoplantar keratoderma-esophageal carcinoma syndrome
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 8.5 | GERP 2.1, phastCons 1 |
| Regional constraint | o/e 0.84 | unconstrained · MANE · 7,466 bp · p 2.1e-05 · regional, not allelic |
Variant & gene context
- Gene
- RHBDF2
- Protein
- p.Ser262Asp
- Coding
- c.784_785inv
- MANE Select
- NM_001005498
- Type
- Inversion
- Location
- chr17:76477673 (GRCh38)
- Gene constraint
- LOEUF 0.545 · pLI 0.15 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 67.53 · 5 PDB
- Residue 262
- the 'involved in interaction with frmd8' region
Disease context
palmoplantar keratoderma-esophageal carcinoma syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Palmoplantar keratoderma-esophageal carcinoma syndrome (Orphanet):
- Inheritance
- Autosomal dominant
- Onset
- Adolescent, Adult
Similar variants
- RHBDF2 p.Ile157Thr Pathogenic/Likely pathogenic ★★ ⚠ same condition
- RHBDF2 c.151-27G>T Uncertain significance ★★ ⚠ same condition
- RHBDF2 c.151-86G>A Uncertain significance ★★ ⚠ same condition
- RHBDF2 p.Ala397Ser Uncertain significance ★★ ⚠ same condition
- RHBDF2 p.Ala725Val Uncertain significance ★★ ⚠ same condition
- RHBDF2 p.Arg113His Uncertain significance ★★ ⚠ same condition
- RHBDF2 p.Arg235Trp Uncertain significance ★★ ⚠ same condition
- RHBDF2 p.Arg237Trp 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/rhbdf2-p-ser262asp (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown