MUC5B-AS1

MUC5B antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 11:1242261-1249676

Links

ENSG00000255177 ∙ ∙ ∙ HGNC:53936 ∙ ∙ ∙ 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 MUC5B-AS1 gene.

• Inborn genetic diseases (254 variants)
• not provided (149 variants)
• not specified (55 variants)
• Interstitial lung disease 2 (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MUC5B-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)			2			2
splice region						0
non coding			239	117	60	416
Total	0	0	241	117	60

Variants in MUC5B-AS1

This is a list of pathogenic ClinVar variants found in the MUC5B-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
11-1242265-C-T			Likely benign (Mar 01, 2023)
11-1242266-G-A		not specified	Uncertain significance (Jul 14, 2021)
11-1242293-G-A			Benign (Jun 09, 2021)
11-1242324-G-C		not specified	Uncertain significance (May 20, 2024)
11-1242335-G-A		not specified	Uncertain significance (May 21, 2024)
11-1242356-A-G		not specified	Likely benign (Dec 09, 2023)
11-1242367-G-T			Uncertain significance (Sep 01, 2023)
11-1242371-C-T		not specified	Uncertain significance (Jan 30, 2024)
11-1242376-G-A			Likely benign (Dec 01, 2022)
11-1242403-C-A		not specified	Uncertain significance (May 07, 2024)
11-1242410-G-C		not specified	Uncertain significance (Aug 09, 2021)
11-1242418-G-A			Likely benign (Jun 01, 2022)
11-1242457-C-T			Benign (Jun 09, 2021)
11-1242461-G-A		not specified	Uncertain significance (May 17, 2023)
11-1242499-C-T		MUC5B-related disorder	Likely benign (Apr 15, 2024)
11-1242500-G-C			Uncertain significance (Jul 06, 2021)
11-1242511-T-C			Likely benign (Dec 01, 2022)
11-1242527-A-G		not specified	Benign (Mar 28, 2016)
11-1242530-C-T		not specified	Uncertain significance (Nov 17, 2022)
11-1242534-G-A		not specified	Uncertain significance (Dec 28, 2023)
11-1242540-G-C		not specified	Uncertain significance (Nov 16, 2021)
11-1242546-C-T		not specified	Benign (Jun 09, 2021)
11-1242569-C-A		not specified	Uncertain significance (Aug 04, 2023)
11-1242578-A-G		not specified	Uncertain significance (Oct 16, 2023)
11-1242583-G-A			Likely benign (Mar 01, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP