MRPS7 p.Ala9=
c.27C>T · rs777267916 · VCV390699
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0286%, sas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 1.9 | GERP -2, phastCons 0.054 |
| Overall | ||
| CADD | 8.222 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0286%
South Asian · 26/91,060 alleles
Filtering AF
0.0199%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0171%
Overall
0.00168%
27/1,609,048 alleles · ultra-rare
exomes 24/1,456,830 · genomes 3/152,218 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.0286% | 3,502 |
| European (non-Finnish) | 8.48e-05% | 1,179,880 |
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
- MRPS7
- Protein
- p.Ala9=
- Coding
- c.27C>T
- MANE Select
- NM_015971
- dbSNP
- rs777267916
- Type
- single nucleotide variant
- Location
- chr17:75261927 (GRCh38)
- Gene constraint
- LOEUF 0.758 · pLI 0.05 (gnomAD)
- Structure
- AlphaFold pLDDT 87.29 · 86 PDB
Similar variants
- MRPS7 p.Arg166Cys Uncertain significance ★★ ⚠ same type
- MRPS7 p.Arg192Gln Uncertain significance ★★ ⚠ same type
- MRPS7 p.Arg192Trp Uncertain significance ★★ ⚠ same type
- MRPS7 p.Arg21Gln Uncertain significance ★★ ⚠ same type
- MRPS7 p.Arg240Cys Uncertain significance ★★ ⚠ same type
- MRPS7 p.Glu138Lys Uncertain significance ★★ ⚠ same type
- MRPS7 p.Glu67Gln Uncertain significance ★★ ⚠ same type
- MRPS7 p.Met229Thr Uncertain significance ★★ ⚠ 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/mrps7-p-ala9 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown