MYCNOS

Chr 2

MYCN opposite strand

Also known as: MYCN-AS1, N-CYM, NCYM, NYCM

NCBI Gene: 10408 ENSG00000233718 UniProt: P40205 OMIM: 605374

This gene encodes a small protein that stabilizes the MYCN oncogene by inhibiting GSK3B-mediated phosphorylation and may also function as a regulatory RNA that recruits transcriptional regulators to promote MYCN expression. MYCNOS is primarily associated with neuroblastoma, a pediatric cancer typically presenting in infancy and early childhood. The inheritance pattern and role in Mendelian neurological disorders remains unclear, as this gene is best characterized in the context of somatic cancer biology.

OMIM ResearchSummary from RefSeq, UniProt

This gene is transcribed in antisense to the v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog gene (MYCN). It is thought to encode a small, novel protein that stabilizes MYCN, prevents apoptosis, and promotes cell proliferation. Transcripts at this locus may also act directly as functional RNAs to recruit transcriptional regulators to the promoter of MYCN and stimulate transcription of this oncogene. This gene therefore functions through both RNA and protein products. [provided by RefSeq, Aug 2016]

OMIM ResearchGenerating clinical summary…

Clinical Summary— MYCNOS

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ClinVar Variants

18 unique Pathogenic / Likely Pathogenic· 43 VUS of 101 total submissions

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Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

101 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic10

Likely Pathogenic8

VUS43

Likely Benign27

Benign2

Conflicting6

Pathogenic

Likely Pathogenic

VUS

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	10	0	0	0	10
Likely Pathogenic	5	2	1	0	8
VUS	2	37	3	1	43
Likely Benign	1	2	2	22	27
Benign	0	0	0	2	2
Conflicting	—				6
Total	18	41	6	25	96

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

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30 pathogenic / likely-pathogenic (of 34) ClinVar copy-number / structural variants overlap MYCNOS — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →