DNAAF3-AS1

DNAAF3 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 19:55158939-55177540

Links

ENSG00000267577 ∙ NCBI:101930593 ∙ ∙ HGNC:55292 ∙ ∙ ∙ 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 DNAAF3-AS1 gene.

• Ciliary dyskinesia (303 variants)
• not provided (56 variants)
• Inborn genetic diseases (29 variants)
• Primary ciliary dyskinesia 2 (26 variants)
• not specified (25 variants)
• Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome (16 variants)
• Dilated Cardiomyopathy, Recessive (13 variants)
• Familial restrictive cardiomyopathy (13 variants)
• Hypertrophic cardiomyopathy (13 variants)
• DNAAF3-related condition (3 variants)
• Hypertrophic cardiomyopathy 7 (3 variants)
• Cardiomyopathy, familial restrictive, 1 (3 variants)
• Dilated cardiomyopathy 2A (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNAAF3-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	2	1		4
splice region						0
non coding	22	8	166	138	24	358
Total	22	9	168	139	24

Highest pathogenic variant AF is 0.000105

Variants in DNAAF3-AS1

This is a list of pathogenic ClinVar variants found in the DNAAF3-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
19-55159034-T-G		Primary ciliary dyskinesia	Uncertain significance (Jun 14, 2016)
19-55159062-T-C		Primary ciliary dyskinesia • DNAAF3-related disorder • Primary ciliary dyskinesia 2	Uncertain significance (Jan 24, 2024)
19-55159083-T-C		Primary ciliary dyskinesia	Likely benign (Nov 13, 2023)
19-55159084-G-A		Primary ciliary dyskinesia	Uncertain significance (Nov 25, 2024)
19-55159098-C-T		Primary ciliary dyskinesia	Likely benign (Sep 26, 2016)
19-55159099-G-A		Primary ciliary dyskinesia • Primary ciliary dyskinesia 2 • DNAAF3-related disorder	Conflicting classifications of pathogenicity (Aug 23, 2022)
19-55159102-GC-G		Primary ciliary dyskinesia 2 • Primary ciliary dyskinesia	Uncertain significance (Sep 27, 2019)
19-55159108-G-T		Primary ciliary dyskinesia	Uncertain significance (Jun 22, 2022)
19-55159110-C-T		Primary ciliary dyskinesia	Likely benign (Dec 13, 2022)
19-55159118-G-A			Uncertain significance (Nov 16, 2023)
19-55159145-C-T		Primary ciliary dyskinesia	Uncertain significance (May 30, 2024)
19-55159152-C-T		Primary ciliary dyskinesia	Likely benign (Aug 23, 2016)
19-55159172-G-A		Primary ciliary dyskinesia	Uncertain significance (Aug 13, 2021)
19-55159179-G-A		Primary ciliary dyskinesia	Likely benign (May 06, 2022)
19-55159181-G-A		Primary ciliary dyskinesia	Uncertain significance (Aug 11, 2022)
19-55159193-C-T		Primary ciliary dyskinesia	Uncertain significance (Jan 29, 2021)
19-55159194-C-T		Primary ciliary dyskinesia	Likely benign (Jan 19, 2024)
19-55159197-C-T		Primary ciliary dyskinesia	Likely benign (Jul 06, 2019)
19-55159201-G-A		Primary ciliary dyskinesia	Uncertain significance (Aug 11, 2016)
19-55159201-G-T		Primary ciliary dyskinesia	Uncertain significance (Jul 03, 2022)
19-55159203-C-G		Primary ciliary dyskinesia	Uncertain significance (Dec 13, 2021)
19-55159212-G-GC		Primary ciliary dyskinesia	Uncertain significance (Jun 27, 2022)
19-55159216-TC-CT		Primary ciliary dyskinesia	Uncertain significance (Nov 10, 2018)
19-55159217-C-A		Primary ciliary dyskinesia	Uncertain significance (Aug 04, 2023)
19-55159235-C-T		Primary ciliary dyskinesia	Uncertain significance (Dec 09, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP