STS p.Phe212fs
c.635del · VCV4948678
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
STS-related disorder
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 6 of 11 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -0.48 | GERP -2.5 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- STS
- Protein
- p.Phe212fs
- Coding
- c.635del
- MANE Select
- NM_001320752
- Type
- Deletion
- Location
- chrX:7259595 (GRCh38)
- Structure
- AlphaFold pLDDT 94.31 · 2 PDB
Disease context
STS-related disorder
Similar variants
- STS p.Leu159fs Likely pathogenic ★ same condition
- STS p.Leu53fs Likely pathogenic ★ same condition
- STS p.Phe212Ser Uncertain significance ★ ⚠ same residue
- STS p.Arg449His Likely pathogenic ★ same condition
- STS p.Gly354Ter Likely pathogenic ★ same condition
- STS p.His131Tyr Likely pathogenic ★ same condition
- STS p.Pro68Leu Conflicting classifications of pathogenicity ★ ⚠ same condition
- STS p.Arg21fs 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/sts-p-phe212fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown