TRMU p.Asp98=
c.294C>T · rs2518150085 · VCV2808906
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.000254%, nfe)
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 0.99 | GERP 0.11, phastCons 1 |
| Overall | ||
| CADD | 8.663 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.000254%
European (non-Finnish) · 3/1,179,948 alleles
Filtering AF
6.8e-05%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.9e-05%
Overall
0.000186%
3/1,613,800 alleles · very rare
exomes 3/1,461,794 · genomes 0/152,006 · joint denominator
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
- TRMU
- Protein
- p.Asp98=
- Coding
- c.294C>T
- MANE Select
- NM_018006
- dbSNP
- rs2518150085
- Type
- single nucleotide variant
- Location
- chr22:46343307 (GRCh38)
- Gene constraint
- LOEUF 1.276 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 89.60
- Residue 98
- the 'interaction with target base in trna' region
Similar variants
- TRMU c.1019-1G>A Likely pathogenic ★★ same type
- TRMU c.1102-3C>G Likely pathogenic ★★ same type
- TRMU c.248+1G>A Pathogenic/Likely pathogenic ★★ same type
- TRMU c.249-2A>G Likely pathogenic ★★ same type
- TRMU c.355+1G>C Likely pathogenic ★★ same type
- TRMU c.355+1G>T Likely pathogenic ★★ same type
- TRMU c.478+1G>A Likely pathogenic ★★ same type
- TRMU c.652-2A>G 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/trmu-p-asp98 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown