MALT1-AS1

MALT1 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 18:58670009-58671877

Links

ENSG00000267226 ∙ NCBI:101927322 ∙ ∙ HGNC:55306 ∙ ∙ ∙ 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 MALT1-AS1 gene.

• Combined immunodeficiency due to MALT1 deficiency (36 variants)
• not specified (3 variants)
• Inborn genetic diseases (3 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MALT1-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			24	14	1	39
Total	0	0	24	14	1

Variants in MALT1-AS1

This is a list of pathogenic ClinVar variants found in the MALT1-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
18-58671560-G-A		not specified	Benign (Mar 29, 2016)
18-58671609-G-A		not specified	Uncertain significance (Mar 29, 2016)
18-58671652-G-T		Combined immunodeficiency due to MALT1 deficiency	Likely benign (Jan 31, 2024)
18-58671666-T-C		Combined immunodeficiency due to MALT1 deficiency	Uncertain significance (Aug 04, 2022)
18-58671668-C-G		Combined immunodeficiency due to MALT1 deficiency	Uncertain significance (Dec 23, 2021)
18-58671669-A-G		Combined immunodeficiency due to MALT1 deficiency	Uncertain significance (Aug 15, 2020)
18-58671671-G-A		Combined immunodeficiency due to MALT1 deficiency	Uncertain significance (Aug 31, 2021)
18-58671673-C-T			Likely benign (Jun 01, 2022)
18-58671679-G-T		Combined immunodeficiency due to MALT1 deficiency	Likely benign (Jan 21, 2021)
18-58671681-C-T		Combined immunodeficiency due to MALT1 deficiency	Uncertain significance (May 26, 2021)
18-58671684-C-G		Combined immunodeficiency due to MALT1 deficiency • Inborn genetic diseases	Uncertain significance (Aug 15, 2023)
18-58671684-C-T		Combined immunodeficiency due to MALT1 deficiency	Uncertain significance (Jul 14, 2022)
18-58671685-G-A		Combined immunodeficiency due to MALT1 deficiency • MALT1-related disorder	Likely benign (Oct 05, 2022)
18-58671685-G-C		Combined immunodeficiency due to MALT1 deficiency	Likely benign (Feb 04, 2022)
18-58671688-C-T		Combined immunodeficiency due to MALT1 deficiency	Likely benign (Nov 01, 2022)
18-58671692-C-T		Combined immunodeficiency due to MALT1 deficiency	Uncertain significance (Feb 03, 2022)
18-58671696-C-T		Combined immunodeficiency due to MALT1 deficiency	Uncertain significance (Oct 26, 2019)
18-58671697-G-C		Combined immunodeficiency due to MALT1 deficiency	Likely benign (Jan 22, 2024)
18-58671699-G-T		Combined immunodeficiency due to MALT1 deficiency	Uncertain significance (May 08, 2023)
18-58671703-G-A		Combined immunodeficiency due to MALT1 deficiency	Likely benign (Jun 10, 2021)
18-58671706-G-C		Combined immunodeficiency due to MALT1 deficiency	Likely benign (May 15, 2020)
18-58671710-G-A		Combined immunodeficiency due to MALT1 deficiency	Uncertain significance (Jan 21, 2023)
18-58671714-C-T		Combined immunodeficiency due to MALT1 deficiency	Uncertain significance (Mar 26, 2021)
18-58671718-G-A		Combined immunodeficiency due to MALT1 deficiency	Likely benign (Dec 27, 2022)
18-58671721-C-T		Combined immunodeficiency due to MALT1 deficiency	Likely benign (Jan 29, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP