RNU5F-1

Chr 1

RNA, U5F small nuclear 1

Also known as: RNU5F, U5F

NCBI Gene: 26828 ENSG00000199377

RNU5F-1 encodes a component of the U5 small nuclear ribonucleoprotein (snRNP) that is essential for pre-mRNA splicing through formation of the spliceosomal tri-snRNP complex. Mutations in this gene cause autosomal recessive microcephalic osteodysplastic primordial dwarfism type I, characterized by severe growth restriction, microcephaly, and skeletal abnormalities with onset in early development.

ResearchSummary from RefSeq

Predicted to be involved in formation of quadruple SL/U4/U5/U6 snRNP and spliceosomal tri-snRNP complex assembly. Predicted to be part of U4/U6 x U5 tri-snRNP complex and U5 snRNP. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Clinical Summary— RNU5F-1

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ClinVar Variants

3 VUS of 3 total submissions

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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

3 submitted variants in ClinVar

ClinVar

Classification Summary

VUS3

VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Non-coding	Total
Pathogenic	0	0
Likely Pathogenic	0	0
VUS	3	3
Likely Benign	0	0
Benign	0	0
Total	3	3

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

View in ClinVar →

1 pathogenic / likely-pathogenic (of 3) ClinVar copy-number / structural variants overlap RNU5F-1 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →