STS p.Arg21fs
c.61_73del · VCV4875324
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
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 3 of 11 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.13 | GERP 3.6 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- STS
- Protein
- p.Arg21fs
- Coding
- c.61_73del
- MANE Select
- NM_001320752
- Type
- Deletion
- Location
- chrX:7253255 (GRCh38)
- Structure
- AlphaFold pLDDT 94.31 · 2 PDB
Similar variants
- STS p.Leu159fs Likely pathogenic ★ same type
- STS p.Leu53fs Likely pathogenic ★ same type
- STS p.Phe212fs Likely pathogenic ★ same type
- STS p.Pro146fs Likely pathogenic ★ same type
- STS p.Thr194_Leu195del Uncertain significance ★ same type
- STS c.1082-11del Likely benign ★ same type
- STS c.807-6_807-5del Likely benign ★ same type
- STS c.807-9_807-5del Likely benign ★ 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-arg21fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown