TUSC3 p.Ser85=
c.255C>G · rs762542037 · VCV1793062
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
Inborn genetic diseases
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 -2.6 | GERP -3.1 |
| Overall | ||
| CADD | 2.052 | PHRED · no single calibrated threshold — expert panels disagree |
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
- TUSC3
- Protein
- p.Ser85=
- Coding
- c.255C>G
- MANE Select
- NM_006765
- dbSNP
- rs762542037
- Type
- single nucleotide variant
- Location
- chr8:15623196 (GRCh38)
- Gene constraint
- LOEUF 1.31 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 84.78 · 4 PDB
- Residue 85
- the thioredoxin domain; a β-strand
Similar variants
- TUSC3 p.Gln177Ter Pathogenic ★★ same condition
- TUSC3 p.Arg159Lys Uncertain significance ★★ ⚠ same condition
- TUSC3 p.Arg15Gln Uncertain significance ★★ ⚠ same condition
- TUSC3 p.Arg15Pro Uncertain significance ★★ ⚠ same condition
- TUSC3 p.Arg312Trp Uncertain significance ★★ ⚠ same condition
- TUSC3 p.Leu217Met Uncertain significance ★★ ⚠ same condition
- TUSC3 p.Ile65Val Benign/Likely benign ★★ same condition
- TUSC3 p.Leu29= Benign/Likely benign ★★ 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/tusc3-p-ser85 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown