MEF2C-AS2

MEF2C antisense RNA 2, the group of Antisense RNAs

Basic information

Region (hg38): 5:88675845-88779088

Links

ENSG00000245864 ∙ ∙ ∙ HGNC:53115 ∙ ∙ ∙ 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-AS2 gene.

• Intellectual disability, autosomal dominant 20 (208 variants)
• not provided (84 variants)
• not specified (29 variants)
• Inborn genetic diseases (22 variants)
• Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations (10 variants)
• Autism spectrum disorder (3 variants)
• Intellectual disability (3 variants)
• MEF2C-related condition (2 variants)
• MEF2C-Related Disorder (1 variants)
• 5q14.3 microdeletion syndrome (1 variants)
• MEF2C-related complex neurodevelopmental disorder (1 variants)
• Autosomal dominant epilepsy (1 variants)
• Seizure (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MEF2C-AS2 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		2
splice region						0
non coding	28	16	93	136	27	300
Total	28	16	94	137	27

Variants in MEF2C-AS2

This is a list of pathogenic ClinVar variants found in the MEF2C-AS2 region.

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

Position	Type	Phenotype	Significance	ClinVar
5-88719217-T-A		Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations	Uncertain significance (Jun 14, 2016)
5-88719558-C-T		Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations	Benign/Likely benign (Jun 01, 2022)
5-88719559-G-A		Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations	Uncertain significance (Jun 14, 2016)
5-88719725-T-TCA		Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations	Uncertain significance (Jun 14, 2016)
5-88720336-AT-A		Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations	Uncertain significance (Jun 14, 2016)
5-88720336-A-AT		Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations	Benign (Jun 14, 2016)
5-88720336-A-ATT		Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations	Uncertain significance (Jun 14, 2016)
5-88722488-CT-C		Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations	Uncertain significance (Jun 14, 2016)
5-88722548-TATAGC-T		Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations	Uncertain significance (Jun 14, 2016)
5-88722571-GA-G			Benign (Aug 20, 2019)
5-88722571-GAA-G		Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations	Uncertain significance (Jun 14, 2016)
5-88722588-G-C		not specified	Benign (Jul 08, 2014)
5-88722606-A-T		Intellectual disability	Likely pathogenic (Apr 20, 2020)
5-88722610-T-C		Intellectual disability, autosomal dominant 20	Likely benign (Nov 01, 2021)
5-88722611-G-T			Uncertain significance (Apr 01, 2018)
5-88722613-C-T			Uncertain significance (Jul 29, 2022)
5-88722614-C-T		Autosomal dominant epilepsy	Likely pathogenic (Mar 23, 2023)
5-88722623-G-A		Intellectual disability, autosomal dominant 20	Uncertain significance (Feb 08, 2013)
5-88722625-A-C		Intellectual disability, autosomal dominant 20	Likely benign (Feb 21, 2020)
5-88722628-T-C		Intellectual disability, autosomal dominant 20	Likely benign (Feb 21, 2020)
5-88722630-G-T		Intellectual disability, autosomal dominant 20	Likely benign (Jan 11, 2023)
5-88722634-G-A		not specified	Likely benign (May 11, 2017)
5-88722635-C-G			Uncertain significance (May 15, 2023)
5-88722641-A-G		Intellectual disability, autosomal dominant 20	Benign (Oct 25, 2022)
5-88722643-T-A		Intellectual disability, autosomal dominant 20	Likely benign (Feb 21, 2020)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP