MYCNOS

MYCN opposite strand

Basic information

Region (hg38): 2:15918350-15943052

Links

ENSG00000233718 ∙ NCBI:10408 ∙ OMIM:605374 ∙ HGNC:16911 ∙ Uniprot:P40205 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

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

• not provided (17 variants)
• Feingold syndrome type 1 (9 variants)
• not specified (3 variants)
• MYCN-related condition (3 variants)
• megalencephaly-polydactyly syndrome (1 variants)
• Malignant neoplasm of body of uterus (1 variants)
• Medulloblastoma (1 variants)
• Glioblastoma (1 variants)
• Pancreatic adenocarcinoma (1 variants)
• Neuroblastoma (1 variants)
• See cases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYCNOS 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)				1		1
splice region						0
non coding	4	5	5	12	1	27
Total	4	5	5	13	1

Highest pathogenic variant AF is 0.00000657

Variants in MYCNOS

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

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

Position	Type	Phenotype	Significance	ClinVar
2-15940633-C-T		MYCN-related disorder	Uncertain significance (Aug 27, 2024)
2-15940640-C-G		MYCN-related disorder	Likely benign (Apr 16, 2024)
2-15940646-CG-C		Feingold syndrome type 1	Likely benign (-)
2-15940647-G-T		MYCN-related disorder	Benign (Sep 01, 2022)
2-15940650-C-T		Feingold syndrome type 1	not provided (-)
2-15940683-C-A		MYCN-related disorder	Uncertain significance (Apr 09, 2023)
2-15940684-C-T		MYCN-related disorder	Likely benign (Jun 09, 2022)
2-15940691-A-C			Likely benign (Jan 01, 2023)
2-15940712-A-G			Likely benign (Dec 14, 2020)
2-15940728-C-T		MYCN-related disorder	Likely benign (Sep 21, 2021)
2-15941822-G-A			Likely benign (Jun 29, 2018)
2-15941939-C-T		not specified	Likely benign (Jul 20, 2017)
2-15941964-C-T		MYCN-related disorder	Likely benign (Jun 03, 2019)
2-15941967-C-T			Likely benign (Jun 05, 2018)
2-15941981-G-T		Feingold syndrome type 1	Uncertain significance (Jul 02, 2020)
2-15942038-C-T		MYCN-related disorder	Uncertain significance (Dec 28, 2023)
2-15942048-G-C		not specified	Likely benign (May 25, 2017)
2-15942066-T-C		Feingold syndrome type 1	Likely benign (-)
2-15942072-G-C		MYCN-related disorder	Conflicting classifications of pathogenicity (Apr 24, 2018)
2-15942082-G-A		not specified • MYCN-related disorder • Feingold syndrome type 1	Likely benign (Jun 01, 2024)
2-15942084-C-T			Uncertain significance (Jun 11, 2023)
2-15942099-T-G			Uncertain significance (Sep 01, 2022)
2-15942129-A-ACTCG		Feingold syndrome type 1	Pathogenic (Jan 12, 2016)
2-15942133-G-T		Feingold syndrome type 1	Benign/Likely benign (Aug 12, 2022)
2-15942137-C-T			Pathogenic (Aug 20, 2015)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Regulates stability of MYCN in neuroblastoma cells by inhibiting GSK3B-mediated MYCN phosphorylation. Inhibits GSK3B activity by promoting its phosphorylation at 'Ser-9' (PubMed:24391509). {ECO:0000269|PubMed:24391509}.

Gene ontology

• Biological process: multicellular organism development;positive regulation of cell population proliferation;regulation of protein stability;negative regulation of kinase activity;negative regulation of apoptotic process
• Cellular component: nucleus;cytoplasm
• Molecular function: protein binding