SNHG14

Chr 15

small nucleolar RNA host gene 14

Also known as: 115HG, IC-SNURF-SNRPN, IPW, LNCAT, NCRNA00002, NCRNA00214, U-UBE3A-ATS, UBE3A-AS

NCBI Gene: 104472715 ENSG00000224078 OMIM: 616259

SNHG14 produces a long non-coding RNA that hosts small nucleolar RNAs (snoRNAs) and regulates imprinted expression of UBE3A in the brain through antisense transcription. Mutations cause Prader-Willi syndrome, characterized by neonatal hypotonia, feeding difficulties in infancy followed by hyperphagia and obesity, intellectual disability, and behavioral problems. The gene follows genomic imprinting with paternal expression and is located in the Prader-Willi critical region on chromosome 15.

OMIM ResearchSummary from RefSeq

This gene is located within the Prader-Willi critical region and produces a long, spliced paternally-imprinted RNA that initiates within a common upstream promoter region shared by the SNRPN (small nuclear ribonucleoprotein polypeptide N) and SNURF genes. This transcript serves as a host RNA for the small nucleolar RNA, C/D box 115 and 116 clusters. This RNA extends in antisense into the region of the ubiquitin protein ligase E3A gene (UBE3A), and is thought to regulate imprinted expression of UBE3A in the brain. This transcript undergoes extensive alternative splicing, and may initiate and terminate at multiple locations within this genomic region. The full-length structure of all splice forms is not determined. [provided by RefSeq, Mar 2017]

OMIM ResearchGenerating clinical summary…

Clinical Summary— SNHG14

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ClinVar Variants

268 unique Pathogenic / Likely Pathogenic· 405 VUS of 981 total submissions

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Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

981 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic185

Likely Pathogenic83

VUS405

Likely Benign250

Benign27

Conflicting14

185

Pathogenic

Likely Pathogenic

405

VUS

250

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	157	21	7	0	185
Likely Pathogenic	36	47	0	0	83
VUS	5	368	27	5	405
Likely Benign	3	2	78	167	250
Benign	0	1	17	9	27
Conflicting	—				14
Total	201	439	129	181	964

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

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156 pathogenic / likely-pathogenic (of 182) ClinVar copy-number / structural variants overlap SNHG14 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →