MORC2-AS1

MORC2 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 22:30922294-30932449

Previous symbols: [ "C22orf27", "NCRNA00325" ]

Links

ENSG00000235989 ∙ NCBI:150291 ∙ ∙ HGNC:26662 ∙ ∙ ∙ 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 MORC2-AS1 gene.

• Charcot-Marie-Tooth disease axonal type 2Z (53 variants)
• not provided (15 variants)
• Inborn genetic diseases (5 variants)
• Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy (3 variants)
• Charcot-Marie-Tooth disease axonal type 2Z;Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy (2 variants)
• Tip-toe gait (1 variants)
• Charcot-Marie-Tooth disease, type I (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 MORC2-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		1	33	27	6	67
Total	0	1	33	27	6

Variants in MORC2-AS1

This is a list of pathogenic ClinVar variants found in the MORC2-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
22-30926746-C-A			Likely benign (Aug 30, 2018)
22-30926808-C-A		Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy	Uncertain significance (Sep 03, 2021)
22-30926820-T-C		Charcot-Marie-Tooth disease axonal type 2Z	Uncertain significance (Aug 28, 2023)
22-30926821-G-A		Charcot-Marie-Tooth disease axonal type 2Z	Likely benign (Dec 09, 2023)
22-30926821-G-T		Charcot-Marie-Tooth disease axonal type 2Z	Likely benign (Feb 22, 2017)
22-30926836-G-C		Charcot-Marie-Tooth disease axonal type 2Z	Likely benign (Sep 08, 2023)
22-30926838-C-T		Charcot-Marie-Tooth disease axonal type 2Z	Uncertain significance (Dec 14, 2023)
22-30926839-G-A		Charcot-Marie-Tooth disease axonal type 2Z	Likely benign (Oct 22, 2023)
22-30926856-T-C		Charcot-Marie-Tooth disease axonal type 2Z	Uncertain significance (Feb 24, 2022)
22-30926861-AT-A			Uncertain significance (Feb 24, 2024)
22-30926871-C-T		Charcot-Marie-Tooth disease axonal type 2Z;Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy	Likely pathogenic (Jun 20, 2022)
22-30926875-G-C		Charcot-Marie-Tooth disease axonal type 2Z • Inborn genetic diseases	Conflicting classifications of pathogenicity (Apr 22, 2023)
22-30926880-G-A		Charcot-Marie-Tooth disease axonal type 2Z	Likely benign (Feb 20, 2022)
22-30926880-G-C		Charcot-Marie-Tooth disease axonal type 2Z	Likely benign (Oct 13, 2023)
22-30926886-G-T		Charcot-Marie-Tooth disease axonal type 2Z	Likely benign (Apr 21, 2022)
22-30926890-G-A		Charcot-Marie-Tooth disease axonal type 2Z	Likely benign (Apr 15, 2023)
22-30927064-C-A			Benign (Jul 26, 2018)
22-30927797-G-A			Benign (Aug 02, 2018)
22-30927913-G-C			Benign (Jul 06, 2018)
22-30928000-G-C		Charcot-Marie-Tooth disease axonal type 2Z	Likely benign (May 02, 2023)
22-30928009-CC-AA		Charcot-Marie-Tooth disease axonal type 2Z	Likely benign (Jun 05, 2023)
22-30928010-C-G		Charcot-Marie-Tooth disease axonal type 2Z • Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy	Benign (Jan 15, 2024)
22-30928011-G-A		Charcot-Marie-Tooth disease axonal type 2Z	Likely benign (Nov 11, 2021)
22-30928012-G-A		Charcot-Marie-Tooth disease axonal type 2Z	Likely benign (Nov 27, 2023)
22-30928013-G-C		Charcot-Marie-Tooth disease axonal type 2Z	Uncertain significance (Oct 28, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP