TRIOBP p.Ser121=
c.363C>A · rs201843208 · VCV666768
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 6 submitters
gnomAD v4.1
Rare
rare (popmax 0.325%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | all four deltas below 0.2 · C>G here scores Δ0.24 · evaluated, not missing |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -0.36 | GERP -0.49 |
| Overall | ||
| CADD | 1.029 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.325%
African / African-American · 244/75,066 alleles
Filtering AF
0.292%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.279%
Overall
0.016%
258/1,614,090 alleles · rare
exomes 135/1,461,766 · genomes 123/152,324 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.325% | 308 |
| Admixed American | 0.0117% | 8,574 |
| Remaining individualsnot grpmax-eligible | 0.0096% | 10,417 |
| European (non-Finnish) | 8.47e-05% | 1,179,954 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- TRIOBP
- Protein
- p.Ser121=
- Coding
- c.363C>A
- MANE Select
- NM_001039141
- dbSNP
- rs201843208
- Type
- single nucleotide variant
- Location
- chr22:37713318 (GRCh38)
- Gene constraint
- LOEUF 0.865 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 40.77
- Residue 121
- the 'disordered' region
Similar variants
- TRIOBP c.5184+1G>A Pathogenic/Likely pathogenic ★★ same type
- TRIOBP p.Arg1025Ter Pathogenic/Likely pathogenic ★★ same type
- TRIOBP p.Arg1068Ter Pathogenic/Likely pathogenic ★★ same type
- TRIOBP p.Arg1117Ter Pathogenic ★★ same type
- TRIOBP p.Arg1745Ter Likely pathogenic ★★ same type
- TRIOBP p.Arg347Ter Pathogenic ★★ same type
- TRIOBP p.Arg399Ter Pathogenic/Likely pathogenic ★★ same type
- TRIOBP p.Arg448Ter 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/triobp-p-ser121 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown