NUTM2B-AS1

NUTM2B antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 10:79661394-79826594

Links

ENSG00000225484 ∙ NCBI:101060691 ∙ OMIM:618639 ∙ HGNC:51204 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Oculopharyngeal myopathy with leukoencephalopathy 1	AD	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Musculoskeletal; Neurologic	31332380

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the NUTM2B-AS1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NUTM2B-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	1		2
Total	0	0	1	1	0

Variants in NUTM2B-AS1

This is a list of pathogenic ClinVar variants found in the NUTM2B-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
10-79706550-T-C			Likely benign (Nov 01, 2024)
10-79706577-T-C			Likely benign (Nov 01, 2023)
10-79706584-A-G			Likely benign (Aug 01, 2023)
10-79710623-C-T			Likely benign (Dec 01, 2024)
10-79710644-C-T			Likely benign (Dec 31, 2019)
10-79710716-C-T			Likely benign (Mar 01, 2023)
10-79711875-T-C		not specified	Benign (-)
10-79711884-G-A			Likely benign (Sep 01, 2022)
10-79711899-G-A			Likely benign (Oct 01, 2024)
10-79712337-CTGAAAAGACA-C		Oculopharyngeal myopathy with leukoencephalopathy 1	Benign (Jan 02, 2020)
10-79712349-CCT-C		Oculopharyngeal myopathy with leukoencephalopathy 1	Benign (Jan 02, 2020)
10-79723334-AT-A			Likely benign (Feb 01, 2025)
10-79723614-G-A			Benign (Jan 01, 2025)
10-79763599-C-A			Benign (Feb 01, 2025)
10-79804284-T-A			Likely benign (Jul 01, 2024)
10-79812006-A-G			Likely benign (Jan 01, 2023)
10-79812193-T-C			Uncertain significance (Feb 01, 2024)
10-79825992-G-A			Likely benign (Mar 01, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP