MEF2C-AS1

MEF2C antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 5:88883276-89467616

Links

ENSG00000248309 ∙ NCBI:101929423 ∙ ∙ HGNC:48908 ∙ ∙ ∙ 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 MEF2C-AS1 gene.

• not provided (4 variants)
• Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MEF2C-AS1 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			2	1	3	6
Total	0	0	2	1	3

Variants in MEF2C-AS1

This is a list of pathogenic ClinVar variants found in the MEF2C-AS1 region.

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

Position	Type	Phenotype	Significance	ClinVar
5-88883302-AGAG-A		MEF2C-related disorder	Likely benign (Oct 13, 2023)
5-88883308-GGAGGAGGAGGAAGA-G		Frontotemporal dementia	Likely pathogenic (Aug 01, 2015)
5-88883309-GAGGAGGAGGAAGA-G		MEF2C-related disorder	Benign (Nov 01, 2023)
5-88883322-A-G		MEF2C-related disorder	Likely benign (Nov 04, 2021)
5-88883337-AAGG-A		Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations	Uncertain significance (Jun 14, 2016)
5-88883337-AAGGAGG-A			Benign (Nov 01, 2022)
5-88883337-A-AAGG		Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations	Conflicting classifications of pathogenicity (Nov 01, 2024)
5-88883337-A-AAGGAGG		Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations	Uncertain significance (Jun 14, 2016)
5-88887496-A-G			Benign (Aug 31, 2015)
5-88887834-A-G			Benign (Jun 29, 2018)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP