CARD11-AS1

CARD11 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 7:2944027-2947091

Links

ENSG00000237286 ∙ NCBI:101927256 ∙ ∙ HGNC:40766 ∙ ∙ ∙ 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 CARD11-AS1 gene.

• BENTA disease;Severe combined immunodeficiency due to CARD11 deficiency (32 variants)
• Severe combined immunodeficiency due to CARD11 deficiency;BENTA disease (23 variants)
• not provided (13 variants)
• BENTA disease (6 variants)
• not specified (4 variants)
• Immunodeficiency 11b with atopic dermatitis (4 variants)
• Inborn genetic diseases (2 variants)
• BENTA disease;Immunodeficiency 11b with atopic dermatitis;Severe combined immunodeficiency due to CARD11 deficiency (1 variants)
• Osteopenia;Asthma;Splenomegaly (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CARD11-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	6	3	32	26	2	69
Total	6	3	34	26	2

Highest pathogenic variant AF is 0.00000657

Variants in CARD11-AS1

This is a list of pathogenic ClinVar variants found in the CARD11-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
7-2944198-T-G		BENTA disease;Severe combined immunodeficiency due to CARD11 deficiency	Likely benign (Jan 01, 2023)
7-2944215-G-C		BENTA disease;Severe combined immunodeficiency due to CARD11 deficiency	Likely benign (Oct 13, 2023)
7-2944220-G-A		Severe combined immunodeficiency due to CARD11 deficiency;BENTA disease	Pathogenic (Sep 15, 2020)
7-2944228-C-T		Inborn genetic diseases	Uncertain significance (Apr 13, 2022)
7-2944230-G-A		Severe combined immunodeficiency due to CARD11 deficiency;BENTA disease	Likely benign (Feb 08, 2022)
7-2944242-C-G		BENTA disease;Severe combined immunodeficiency due to CARD11 deficiency	Likely benign (Dec 06, 2022)
7-2944242-C-T		Severe combined immunodeficiency due to CARD11 deficiency;BENTA disease	Likely benign (Sep 27, 2022)
7-2944248-GTTC-G		BENTA disease;Severe combined immunodeficiency due to CARD11 deficiency	Uncertain significance (May 14, 2022)
7-2944249-T-A		BENTA disease;Severe combined immunodeficiency due to CARD11 deficiency	Uncertain significance (May 17, 2021)
7-2944251-C-G		Severe combined immunodeficiency due to CARD11 deficiency;BENTA disease	Uncertain significance (May 17, 2021)
7-2944262-T-C		Severe combined immunodeficiency due to CARD11 deficiency;BENTA disease	Uncertain significance (Nov 14, 2022)
7-2944275-G-C		BENTA disease;Severe combined immunodeficiency due to CARD11 deficiency	Likely benign (Jun 13, 2023)
7-2944280-T-A		BENTA disease;Severe combined immunodeficiency due to CARD11 deficiency	Likely benign (Aug 10, 2023)
7-2944284-T-C		BENTA disease;Severe combined immunodeficiency due to CARD11 deficiency	Likely benign (Dec 22, 2023)
7-2944290-G-A		Severe combined immunodeficiency due to CARD11 deficiency;BENTA disease	Likely benign (Aug 14, 2020)
7-2944306-A-G		not specified	not provided (Sep 19, 2013)
7-2944308-C-T		Severe combined immunodeficiency due to CARD11 deficiency;BENTA disease	Likely benign (Nov 21, 2023)
7-2944307-C-CCTTGACCAGCTCGTCATTGTAGCTGTCCCGCTCTTCCTTCAT		Immunodeficiency 11b with atopic dermatitis	Pathogenic (-)
7-2944311-G-A		BENTA disease;Severe combined immunodeficiency due to CARD11 deficiency	Likely benign (Dec 01, 2022)
7-2944313-C-G		Severe combined immunodeficiency due to CARD11 deficiency;BENTA disease • BENTA disease • not specified	Conflicting classifications of pathogenicity (Jan 29, 2024)
7-2944320-G-A		BENTA disease;Severe combined immunodeficiency due to CARD11 deficiency	Likely benign (Aug 09, 2022)
7-2944321-T-C		BENTA disease;Severe combined immunodeficiency due to CARD11 deficiency	Uncertain significance (Dec 08, 2022)
7-2944324-T-C		not specified • BENTA disease;Severe combined immunodeficiency due to CARD11 deficiency	Conflicting classifications of pathogenicity (Feb 01, 2024)
7-2944326-G-A		Severe combined immunodeficiency due to CARD11 deficiency;BENTA disease	Likely benign (Jun 25, 2022)
7-2944336-C-T		Severe combined immunodeficiency due to CARD11 deficiency;BENTA disease	Uncertain significance (Jun 15, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP