Is RPL5 p.Pro47= (c.141C>T) pathogenic?

RPL5 p.Pro47= (c.141C>T) is classified Likely benign in RPL5 (ClinVar, Multiple submitters, 3 submitters; last evaluated 2025-09-13). Ultra-rare (popmax 0.0533%, afr); Associated with Diamond-Blackfan anemia.

What condition is associated with RPL5 p.Pro47= (c.141C>T)?

RPL5 p.Pro47= (c.141C>T) is associated with Diamond-Blackfan anemia, Diamond-Blackfan anemia 6 (ClinVar).

How common is RPL5 p.Pro47= (c.141C>T) in the general population?

RPL5 p.Pro47= (c.141C>T) is ultra-rare (popmax 0.0533%, afr) (gnomAD).

How is Diamond-Blackfan anemia inherited?

Typically Autosomal dominant (Orphanet). A genetic counselor can assess individual risk for a family.

RPL5 p.Pro47=

c.141C>T · rs150375325 · VCV1154245

Likely benign Multiple submitters

Classification

Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 3 submitters

gnomAD v4.1

Rare

ultra-rare (popmax 0.0533%, afr)

Conditions

Diamond-Blackfan anemia

⚠ 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 -1.9	GERP -4.8
Overall
CADD	9.513	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0533% African / African-American · 40/74,990 alleles

Filtering AF 0.0402% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0356%

Overall 0.00279% 45/1,612,444 alleles · ultra-rare exomes 20/1,460,164 · genomes 25/152,280 · joint denominator

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.0533%	1,875
Admixed American	0.00333%	30,006
European (non-Finnish)	0.000254%	393,326

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: RPL5
Protein: p.Pro47=
Coding: c.141C>T
MANE Select: NM_000969
dbSNP: rs150375325
Type: single nucleotide variant
Location: chr1:92833612 (GRCh38)

Full RPL5 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Diamond-Blackfan anemia — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: Diamond-Blackfan anemia 6

For Diamond-Blackfan anemia (Orphanet):

Inheritance: Autosomal dominant
Onset: Childhood, Infancy, Neonatal
Prevalence: 1-9 / 1 000 000 (Europe)

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/rpl5-p-pro47 (accessed [today's date]).

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