MTOR-AS1

MTOR antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 1:11143898-11149537

Links

ENSG00000225602 ∙ ∙ ∙ HGNC:40242 ∙ ∙ ∙ 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 MTOR-AS1 gene.

• not provided (82 variants)
• Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome (4 variants)
• not specified (2 variants)
• Inborn genetic diseases (2 variants)
• MTOR-related condition (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MTOR-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		22	48	13	84
Total	1	0	22	48	13

Variants in MTOR-AS1

This is a list of pathogenic ClinVar variants found in the MTOR-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
1-11144628-G-A			Likely benign (Feb 17, 2024)
1-11144628-G-C			Likely benign (Nov 11, 2024)
1-11144629-G-A			Likely benign (Nov 22, 2022)
1-11144633-T-G			Likely benign (Jun 28, 2022)
1-11144639-C-T			Likely benign (Feb 17, 2024)
1-11144645-C-G			Uncertain significance (Jan 11, 2025)
1-11144648-C-G		Isolated focal cortical dysplasia type II	Uncertain significance (Sep 22, 2024)
1-11144651-C-T			Likely benign (Apr 17, 2021)
1-11144653-G-A			Likely benign (Dec 13, 2023)
1-11144658-T-C			Benign (Oct 23, 2024)
1-11144670-T-C			Benign (Sep 16, 2022)
1-11144673-C-T		not specified	Conflicting classifications of pathogenicity (Sep 23, 2024)
1-11144674-G-A			Likely benign (Jun 07, 2024)
1-11144678-G-A			Likely benign (Jan 02, 2023)
1-11144679-A-G		Inborn genetic diseases • MTOR-related disorder	Benign/Likely benign (Nov 07, 2024)
1-11144683-C-G			Benign (Feb 05, 2022)
1-11144683-C-T			Benign (Nov 04, 2024)
1-11144685-C-T		MTOR-related disorder • Inborn genetic diseases	Conflicting classifications of pathogenicity (Dec 30, 2024)
1-11144686-G-A			Likely benign (Aug 16, 2022)
1-11144688-C-T			Uncertain significance (Dec 19, 2024)
1-11144691-T-G			Uncertain significance (May 06, 2024)
1-11144692-C-T			Likely benign (Nov 15, 2024)
1-11144696-G-A			Likely benign (Oct 18, 2023)
1-11144718-T-G			Uncertain significance (Jun 05, 2022)
1-11144723-C-T			Likely benign (Dec 11, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP