DNAH17-AS1

DNAH17 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 17:78484882-78503056

Links

ENSG00000267432 ∙ NCBI:100996295 ∙ ∙ HGNC:48594 ∙ ∙ ∙ 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 DNAH17-AS1 gene.

• not provided (67 variants)
• Inborn genetic diseases (62 variants)
• not specified (9 variants)
• Spermatogenic failure 39 (5 variants)
• DNAH17-related condition (1 variants)
• Short stature (1 variants)
• - (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNAH17-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	3	2	62	12	56	135
Total	3	2	62	12	57

Highest pathogenic variant AF is 0.00000657

Variants in DNAH17-AS1

This is a list of pathogenic ClinVar variants found in the DNAH17-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
17-78484884-T-C		DNAH17-related disorder	Benign (Mar 21, 2019)
17-78484886-T-A		Inborn genetic diseases	Uncertain significance (Oct 02, 2023)
17-78484899-G-A		Inborn genetic diseases	Uncertain significance (Apr 07, 2022)
17-78484945-C-T		Inborn genetic diseases	Uncertain significance (Jun 24, 2022)
17-78484959-A-C		Inborn genetic diseases • DNAH17-related disorder	Conflicting classifications of pathogenicity (Aug 01, 2024)
17-78484965-C-T		Inborn genetic diseases	Likely benign (Apr 27, 2022)
17-78485098-G-A			Benign (May 11, 2021)
17-78485207-C-T			Benign (May 18, 2021)
17-78485428-T-C			Benign (May 11, 2021)
17-78485526-A-G			Benign (May 11, 2021)
17-78485531-G-A			Benign (May 18, 2021)
17-78485588-A-G		Inborn genetic diseases	Uncertain significance (Dec 03, 2021)
17-78485601-G-A		DNAH17-related disorder	Likely benign (Mar 18, 2019)
17-78485611-C-G		not specified • DNAH17-related disorder	Benign (May 04, 2021)
17-78485635-C-T			Likely benign (Jan 01, 2023)
17-78485667-T-C		Inborn genetic diseases	Uncertain significance (May 13, 2022)
17-78485685-G-A		Inborn genetic diseases	Uncertain significance (May 01, 2022)
17-78485738-G-A		DNAH17-related disorder	Benign (May 04, 2021)
17-78485749-C-A		Inborn genetic diseases	Uncertain significance (Oct 05, 2021)
17-78485764-C-CAGGGGAGGGA		DNAH17-related disorder	Benign (Jan 23, 2024)
17-78485915-T-C			Benign (May 11, 2021)
17-78486002-A-C		Inborn genetic diseases	Uncertain significance (Aug 15, 2023)
17-78486012-G-C		Inborn genetic diseases	Uncertain significance (Mar 11, 2024)
17-78486033-G-A		Inborn genetic diseases	Uncertain significance (Jul 27, 2024)
17-78486069-G-A		Inborn genetic diseases	Uncertain significance (Dec 15, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.146

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High