Is MRPS34 p.Pro92= (c.276G>C) pathogenic?

MRPS34 p.Pro92= (c.276G>C) is classified Likely benign in MRPS34 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-07-12). Ultra-rare (popmax 0.0186%, afr).

How common is MRPS34 p.Pro92= (c.276G>C) in the general population?

MRPS34 p.Pro92= (c.276G>C) is ultra-rare (popmax 0.0186%, afr) (gnomAD).

MRPS34 p.Pro92=

c.276G>C · rs1056386574 · VCV2973030

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

ultra-rare (popmax 0.0186%, afr)

⚠ Built without this gene's context — gene constraint and dosage, protein structure, pathways, panels and related-variant links were not looked up for this page. why

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 -0.4	GERP -3.4, phastCons 0.1
Overall
CADD	11.36	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0186% African / African-American · 13/69,956 alleles

Filtering AF 0.0109% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.00865%

Overall 0.000901% 13/1,443,598 alleles · ultra-rare exomes 8/1,291,364 · genomes 5/152,234 · 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: MRPS34
Protein: p.Pro92=
Coding: c.276G>C
MANE Select: NM_023936
dbSNP: rs1056386574
Type: single nucleotide variant
Location: chr16:1772844 (GRCh38)

Full MRPS34 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

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-pro92 (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown