SNAP25 p.Arg176=
c.528C>T · rs1166647040 · VCV2758772
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no allele count reported in gnomAD v4.1 (AN 1,613,742)
Conditions
1
congenital myasthenic syndrome 18
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 6 | GERP 2.4, phastCons 1 |
| Overall | ||
| CADD | 13.38 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
No allele count reported in gnomAD v4.1 (AN 1,613,742). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- SNAP25
- Protein
- p.Arg176=
- Coding
- c.528C>T
- MANE Select
- NM_130811
- dbSNP
- rs1166647040
- Type
- single nucleotide variant
- Location
- chr20:10299388 (GRCh38)
- Gene constraint
- LOEUF 0.29 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 84.14 · 14 PDB
- Residue 176
- the t-snare coiled-coil homology 2 domain
Similar variants
- SNAP25 p.Arg176His Uncertain significance ★ ⚠ same residue
- SNAP25 p.Arg176_Gln177insGluIleAspThrGlnAsnArg Likely pathogenic ★ same residue
- SNAP25 p.Arg176Cys Uncertain significance ★★ same residue
- SNAP25 p.Ala199Glu Pathogenic/Likely pathogenic ★★ same condition
- SNAP25 p.Arg198Pro Likely pathogenic ★★ same condition
- SNAP25 p.Gln197Ter Likely pathogenic ★★ same condition
- SNAP25 p.Gly43Arg Pathogenic/Likely pathogenic ★★ same condition
- SNAP25 p.Ile67Asn Pathogenic/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/snap25-p-arg176 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown