TRIOBP p.Asp2017=
c.6051C>T · rs574989449 · VCV2965643
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.155%, sas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.3 | indeterminate |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 2.2 | GERP 2.1, phastCons 1 |
| Overall | ||
| CADD | 10.07 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.155%
South Asian · 135/87,274 alleles
Filtering AF
0.133%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.125%
Overall
0.00878%
139/1,582,356 alleles · rare
exomes 132/1,430,098 · genomes 7/152,258 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.155% | 646 |
| Remaining individualsnot grpmax-eligible | 0.00489% | 20,449 |
| Admixed American | 0.00183% | 54,534 |
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.Asp2017=
- Coding
- c.6051C>T
- MANE Select
- NM_001039141
- dbSNP
- rs574989449
- Type
- single nucleotide variant
- Location
- chr22:37757976 (GRCh38)
- Gene constraint
- LOEUF 0.865 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 40.77
- Residue 2017
- the 'disordered' region
Similar variants
- TRIOBP p.Asp2017Asn Uncertain significance ★★ ⚠ same residue
- TRIOBP p.Asp2017His Uncertain significance ★ ⚠ same residue
- 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
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-asp2017 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown