DOCK8-AS2

DOCK8 antisense RNA 2, the group of Antisense RNAs

Basic information

Region (hg38): 9:452492-492248

Links

ENSG00000227155 ∙ NCBI:112268042 ∙ ∙ HGNC:55822 ∙ ∙ ∙ 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 DOCK8-AS2 gene.

• Combined immunodeficiency due to DOCK8 deficiency (74 variants)
• not provided (9 variants)
• not specified (2 variants)
• Inborn genetic diseases (2 variants)
• Intellectual disability, autosomal dominant 2 (1 variants)
• Inherited Immunodeficiency Diseases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DOCK8-AS2 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)	1					1
splice region						0
non coding	1	1	50	18	9	79
Total	2	1	50	18	9

Variants in DOCK8-AS2

This is a list of pathogenic ClinVar variants found in the DOCK8-AS2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
9-463276-TA-T			Benign (Sep 12, 2019)
9-463276-TAA-T			Benign (Sep 29, 2019)
9-463502-A-G		Autosomal recessive hyper-IgE syndrome	Likely benign (Aug 10, 2023)
9-463510-A-G		Autosomal recessive hyper-IgE syndrome	Likely benign (Oct 23, 2023)
9-463512-C-G		Autosomal recessive hyper-IgE syndrome	Likely benign (Jul 19, 2023)
9-463519-G-A		Inherited Immunodeficiency Diseases	Likely pathogenic (Jan 01, 2019)
9-463523-T-C		Autosomal recessive hyper-IgE syndrome	Likely benign (Oct 03, 2023)
9-463535-G-C		Combined immunodeficiency due to DOCK8 deficiency	Uncertain significance (Sep 27, 2022)
9-463545-C-T		Autosomal recessive hyper-IgE syndrome	Uncertain significance (Dec 21, 2023)
9-463546-G-A		Autosomal recessive hyper-IgE syndrome	Uncertain significance (Aug 23, 2022)
9-463546-G-T		Combined immunodeficiency due to DOCK8 deficiency	Uncertain significance (Jan 13, 2018)
9-463553-C-G		Autosomal recessive hyper-IgE syndrome	Uncertain significance (Aug 16, 2022)
9-463555-C-T		Autosomal recessive hyper-IgE syndrome • Inborn genetic diseases	Uncertain significance (Jan 24, 2024)
9-463556-G-A		DOCK8-related disorder	Likely benign (Dec 04, 2023)
9-463558-C-T		Combined immunodeficiency due to DOCK8 deficiency	Uncertain significance (Apr 24, 2019)
9-463560-G-C		Autosomal recessive hyper-IgE syndrome	Uncertain significance (Nov 16, 2022)
9-463563-C-T		Autosomal recessive hyper-IgE syndrome	Pathogenic (Oct 13, 2021)
9-463568-G-A		Combined immunodeficiency due to DOCK8 deficiency • Autosomal recessive hyper-IgE syndrome	Conflicting classifications of pathogenicity (Sep 21, 2023)
9-463571-A-G		Autosomal recessive hyper-IgE syndrome	Likely benign (Aug 04, 2023)
9-463582-A-C		Combined immunodeficiency due to DOCK8 deficiency	Uncertain significance (Oct 13, 2022)
9-463583-A-G		Autosomal recessive hyper-IgE syndrome	Likely benign (Apr 25, 2023)
9-463586-C-G		not specified • Autosomal recessive hyper-IgE syndrome • DOCK8-related disorder	Likely benign (Aug 04, 2023)
9-463592-GA-G		Combined immunodeficiency due to DOCK8 deficiency	Uncertain significance (-)
9-463595-C-G		Combined immunodeficiency due to DOCK8 deficiency	Uncertain significance (Nov 27, 2019)
9-463604-G-A		Autosomal recessive hyper-IgE syndrome	Likely benign (Oct 11, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP