SDHC p.Phe85Lys
c.252_255inv · VCV3749117
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
2
gastrointestinal stromal tumor
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 -2.2 | GERP -3.1 |
| Regional constraint | o/e 0.58 | unconstrained · MANE · 22 kb · p 1.5e-06 · regional, not allelic |
Variant & gene context
- Gene
- SDHC
- Protein
- p.Phe85Lys
- Coding
- c.252_255inv
- MANE Select
- NM_003001
- Type
- Inversion
- Location
- chr1:161356687 (GRCh38)
- Gene constraint
- LOEUF 0.892 · pLI 0.05 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 91.05 · 2 PDB
- Residue 85
- an α-helix
Disease context
gastrointestinal stromal tumor — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsAlso linked: pheochromocytoma/paraganglioma syndrome 3
For Gastrointestinal stromal tumor (Orphanet):
- Inheritance
- Autosomal dominant, Not applicable
- Onset
- Adolescent, Adult, Childhood
- Prevalence
- 1-5 / 10 000 (Europe)
Similar variants
- SDHC p.Phe85Cys Uncertain significance ★★ ⚠ same residue
- SDHC p.Phe85= Likely benign ★★ same residue
- SDHC p.Phe85Ser Uncertain significance ★ ⚠ same residue
- SDHC p.Phe85fs Pathogenic ★ same residue
- SDHC c.179+1G>C Likely pathogenic ★★ same condition
- SDHC c.179+1G>T Likely pathogenic ★★ same condition
- SDHC c.180-2A>G Likely pathogenic ★★ same condition
- SDHC c.20+1G>T Likely 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/sdhc-p-phe85lys (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown