MME-AS1

MME antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 3:155158370-155183285

Links

ENSG00000240666 ∙ ∙ ∙ HGNC:40376 ∙ ∙ ∙ 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 MME-AS1 gene.

• not provided (153 variants)
• Inborn genetic diseases (11 variants)
• Charcot-Marie-Tooth disease axonal type 2T (9 variants)
• Spinocerebellar ataxia 43 (4 variants)
• Charcot-Marie-Tooth disease type 2;Charcot-Marie-Tooth disease axonal type 2T;MME-related autosomal dominant Charcot Marie Tooth disease type 2 (1 variants)
• Charcot-Marie-Tooth disease axonal type 2T;Spinocerebellar ataxia 43 (1 variants)
• Peripheral neuropathy (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MME-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	3	10	86	55	13	167
Total	3	10	86	55	13

Highest pathogenic variant AF is 0.00000657

Variants in MME-AS1

This is a list of pathogenic ClinVar variants found in the MME-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
3-155160096-C-T			Likely benign (Jul 31, 2018)
3-155160304-G-A			Likely benign (Jan 28, 2019)
3-155160369-GA-G			Benign (Feb 01, 2024)
3-155160378-T-C			Likely benign (Dec 29, 2023)
3-155160379-G-C			Likely benign (Jun 09, 2022)
3-155160386-A-G			Likely benign (Nov 24, 2023)
3-155160392-G-A			Pathogenic (Mar 03, 2023)
3-155160397-A-C			Uncertain significance (Nov 16, 2021)
3-155160412-G-A		Inborn genetic diseases	Uncertain significance (Apr 06, 2023)
3-155160412-G-C			Uncertain significance (Sep 16, 2024)
3-155160414-C-G			Likely benign (Jul 24, 2023)
3-155160423-T-A			Uncertain significance (Mar 29, 2022)
3-155160433-G-T		MME-related disorder • Charcot-Marie-Tooth disease axonal type 2T	Pathogenic (Apr 16, 2024)
3-155160435-A-G			Likely benign (Mar 22, 2021)
3-155160457-T-C			Likely benign (Oct 15, 2023)
3-155160460-T-C			Likely benign (Oct 25, 2023)
3-155160484-T-C			Likely benign (Jan 02, 2019)
3-155160717-TTTTTA-T			Likely benign (Oct 24, 2018)
3-155166885-A-G			Benign (Sep 29, 2023)
3-155166886-T-C			Likely benign (Dec 03, 2021)
3-155166907-C-T		Charcot-Marie-Tooth disease axonal type 2T	Likely pathogenic (Oct 08, 2018)
3-155166912-C-T			Likely benign (Dec 20, 2023)
3-155166913-G-A			Uncertain significance (Jan 01, 2023)
3-155166924-GC-G			Pathogenic (Jan 17, 2023)
3-155166924-G-GC			Pathogenic (Aug 17, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP