RNU12

RNA, U12 small nuclear, the group of Small nuclear RNAs|U11/U12 di-snRNP

Basic information

Region (hg38): 22:42615244-42615393

Previous symbols: [ "RNU12P" ]

Links

ENSG00000276027 ∙ NCBI:267010 ∙ OMIM:620204 ∙ HGNC:19380 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
CDAGS syndrome; Spinocerebellar ataxia, autosomal recessive 33	AR	Audiologic/Otolaryngologic	Early recognition and treatment of hearing impairment may improve outcomes, including speech and language development	Audiologic/Otolaryngologic; Craniofacial; Dermatologic; Genitourinary; Gastrointestinal; Musculoskeletal; Neurologic	27863452; 34085356

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RNU12 gene.

• Craniosynostosis-anal anomalies-porokeratosis syndrome (4 variants)
• Spinocerebellar ataxia, autosomal recessive 33 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RNU12 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding	5					5
Total	5	0	0	0	0

Highest pathogenic variant AF is 0.000158

Variants in RNU12

This is a list of pathogenic ClinVar variants found in the RNU12 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
22-42615296-C-T			Benign (Oct 01, 2024)
22-42615318-A-G		Craniosynostosis-anal anomalies-porokeratosis syndrome	Pathogenic (Jan 24, 2023)
22-42615320-T-A		Craniosynostosis-anal anomalies-porokeratosis syndrome	Pathogenic (Jan 24, 2023)
22-42615320-T-G		Craniosynostosis-anal anomalies-porokeratosis syndrome	Pathogenic (Jan 24, 2023)
22-42615327-C-T		Spinocerebellar ataxia, autosomal recessive 33	Pathogenic (Jul 06, 2023)
22-42615329-G-A		Craniosynostosis-anal anomalies-porokeratosis syndrome	Likely pathogenic (Oct 08, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Pathway: RNA polymerase II transcribes snRNA genes;Gene expression (Transcription);RNA polymerase II transcribes snRNA genes;RNA Polymerase II Transcription (Consensus)

Essentials

• gene_indispensability_pred: E
• gene_indispensability_score: 0.947

Zebrafish Information Network

• Gene name: rnu12
• Affected structure: whole organism
• Phenotype tag: abnormal
• Phenotype quality: disorganized