DNAH8-AS1

DNAH8 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 6:38923029-38953105

Links

ENSG00000231150 ∙ NCBI:100131047 ∙ ∙ HGNC:40188 ∙ ∙ ∙ 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 DNAH8-AS1 gene.

• Ciliary dyskinesia (173 variants)
• not provided (39 variants)
• Inborn genetic diseases (27 variants)
• Spermatogenic failure 46 (5 variants)
• not specified (3 variants)
• DNAH8-related condition (2 variants)
• Recurrent infections of the middle ear;Recurrent respiratory infections (1 variants)
• Recurrent infections (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNAH8-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)			1			1
splice region						0
non coding	4	4	102	63	41	214
Total	4	4	103	63	41

Highest pathogenic variant AF is 0.0000526

Variants in DNAH8-AS1

This is a list of pathogenic ClinVar variants found in the DNAH8-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
6-38923045-A-G		Primary ciliary dyskinesia	Likely benign (Sep 14, 2022)
6-38923046-T-C		Primary ciliary dyskinesia	Likely benign (Sep 20, 2022)
6-38923052-C-A		Primary ciliary dyskinesia	Likely benign (Sep 07, 2022)
6-38923056-A-G		Primary ciliary dyskinesia	Likely pathogenic (Dec 19, 2023)
6-38923067-A-G		Primary ciliary dyskinesia • not specified	Uncertain significance (Mar 12, 2024)
6-38923068-A-C		not specified	Uncertain significance (Feb 12, 2024)
6-38923069-T-C			Likely benign (Sep 05, 2018)
6-38923073-G-A		Primary ciliary dyskinesia	Likely benign (Jan 06, 2024)
6-38923080-C-T		Primary ciliary dyskinesia • DNAH8-related disorder • not specified	Conflicting classifications of pathogenicity (Jun 12, 2023)
6-38923085-C-T		Primary ciliary dyskinesia • not specified	Uncertain significance (Nov 27, 2023)
6-38923086-G-A		Primary ciliary dyskinesia	Uncertain significance (Sep 21, 2022)
6-38923102-C-T		Primary ciliary dyskinesia	Likely benign (May 27, 2021)
6-38923131-G-A		not specified	Uncertain significance (May 16, 2024)
6-38923155-A-G			Uncertain significance (Apr 26, 2021)
6-38923168-C-G		Primary ciliary dyskinesia	Conflicting classifications of pathogenicity (Jan 04, 2024)
6-38923189-G-A		Primary ciliary dyskinesia • DNAH8-related disorder	Likely benign (Dec 06, 2023)
6-38923193-T-C		Primary ciliary dyskinesia	Likely benign (Sep 05, 2023)
6-38923198-G-C		Primary ciliary dyskinesia	Likely benign (May 12, 2023)
6-38923201-T-G		Primary ciliary dyskinesia	Likely benign (Apr 22, 2023)
6-38923292-T-G			Benign (Nov 11, 2018)
6-38923310-A-C			Benign (May 24, 2021)
6-38923986-C-T		Primary ciliary dyskinesia	Likely benign (Jul 28, 2023)
6-38923994-T-G		Primary ciliary dyskinesia	Likely benign (Jan 19, 2025)
6-38923995-G-A		Primary ciliary dyskinesia	Uncertain significance (Jan 19, 2024)
6-38923995-G-T		Primary ciliary dyskinesia	Benign (Dec 02, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP