RPL30

Chr 8

ribosomal protein L30

Also known as: L30, eL30

NCBI Gene: 6156 ENSG00000156482 UniProt: P62888 OMIM: 180467

RPL30 encodes a ribosomal protein that is a component of the large 60S ribosomal subunit responsible for protein synthesis. Mutations cause Diamond-Blackfan anemia, an autosomal dominant ribosomopathy characterized by congenital bone marrow failure with predominantly red blood cell aplasia and growth retardation. The gene is highly constrained against loss-of-function variants, reflecting its essential role in ribosome function.

OMIM ResearchSummary from RefSeq, UniProt

Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L30E family of ribosomal proteins. It is located in the cytoplasm. This gene is co-transcribed with the U72 small nucleolar RNA gene, which is located in its fourth intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

LOFmechanismLOEUF 0.49

Clinical Summary— RPL30

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Population Constraint (gnomAD)

Moderately constrained gene (pLI 0.85) — some intolerance to loss-of-function variants.

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ClinVar Variants

4 VUS of 21 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.49LOEUF

pLI 0.847

Z-score 2.30

OE 0.00 (0.00–0.49)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

1.99Z-score

OE missense 0.28 (0.19–0.42)

17 obs / 60.7 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.00 (0.00–0.49)

0≤0.351.4

Missense OE?0.28 (0.19–0.42)

0≤0.61.4

Synonymous OE?1.01

0≤1.21.6

LoF obs/exp: 0 / 6.2Missense obs/exp: 17 / 60.7Syn Z: -0.06

This gene — mechanism propensity

0.2997th %ile

GOF

0.2198th %ile

LOF

0.78top 5%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · LOEUF 0.49

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.

ClinVar Variant Classifications

21 submitted variants in ClinVar

ClinVar

Classification Summary

VUS4

Likely Benign1

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Synonymous	Total
Pathogenic	0	0	0
Likely Pathogenic	0	0	0
VUS	4	0	4
Likely Benign	0	1	1
Benign	0	0	0
Total	4	1	5

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

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33 pathogenic / likely-pathogenic (of 35) ClinVar copy-number / structural variants overlap RPL30 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →