IDS p.Ter551Ser
c.1652G>C · VCV3768511
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
stop-loss
predicted LoF
gnomAD v4.1
Absent
absent from gnomAD v4.1
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | stop-loss | predicted loss-of-function in a haploinsufficient gene (ClinGen) |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 1.3 | GERP -3.5, phastCons 1 |
| Overall | ||
| CADD | 6.502 | PHRED · no single calibrated threshold — expert panels disagree |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- IDS
- Protein
- p.Ter551Ser
- Coding
- c.1652G>C
- MANE Select
- NM_000202
- Type
- single nucleotide variant
- Location
- chrX:149482747 (GRCh38)
- Structure
- AlphaFold pLDDT 93.39 · 2 PDB
Similar variants
- IDS c.1006+1G>C Pathogenic ★★ same type
- IDS c.1006+1G>T Pathogenic ★★ same type
- IDS c.1007-133A>G Likely pathogenic ★★ same type
- IDS c.1007-1G>A Pathogenic ★★ same type
- IDS c.1007-2A>C Pathogenic/Likely pathogenic ★★ same type
- IDS c.1007-8T>G Pathogenic/Likely pathogenic ★★ same type
- IDS c.103+1G>A Pathogenic ★★ same type
- IDS c.104-2A>G Pathogenic/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/ids-p-ter551ser (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown