MRPS34 p.Arg27=
c.81G>A · rs1427890180 · VCV3006759
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0135%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not looked up on this page · why |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -0.47 | GERP -3.4, phastCons 0.031 |
| Overall | ||
| CADD | 5.482 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0135%
African / African-American · 9/66,564 alleles
Filtering AF
0.00704%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00519%
Overall
0.00111%
16/1,435,908 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.0135% | 7,396 |
| Remaining individualsnot grpmax-eligible | 0.00182% | 54,880 |
| European (non-Finnish) | 0.000547% | 182,725 |
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
- MRPS34
- Protein
- p.Arg27=
- Coding
- c.81G>A
- MANE Select
- NM_001257370 · reported on NM_023936
- dbSNP
- rs1427890180
- Type
- single nucleotide variant
- Location
- chr16:1773039 (GRCh38)
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/mrps34-p-arg27 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown