DNAH17

dynein axonemal heavy chain 17, the group of Dyneins, axonemal outer arm complex subunits

Basic information

Region (hg38): 17:78423696-78577396

Previous symbols: [ "DNAHL1" ]

Links

ENSG00000187775 ∙ NCBI:8632 ∙ OMIM:610063 ∙ HGNC:2946 ∙ Uniprot:Q9UFH2 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• non-syndromic male infertility due to sperm motility disorder (Supportive), mode of inheritance: AR
• spermatogenic failure 39 (Definitive), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Spermatogenic failure 39	AR	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Genitourinary	31178125

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DNAH17 gene.

• not provided (340 variants)
• Inborn genetic diseases (313 variants)
• not specified (36 variants)
• Spermatogenic failure 39 (6 variants)
• - (4 variants)
• DNAH17-related condition (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNAH17 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				29	33	62
missense	1		306	17	23	347
nonsense		1	1			2
start loss						0
frameshift	1	3				4
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				5	5	10
non coding					224	224
Total	2	4	307	46	280

Highest pathogenic variant AF is 0.00000657

Variants in DNAH17

This is a list of pathogenic ClinVar variants found in the DNAH17 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-78423801-G-A			Benign (May 11, 2021)
17-78423903-G-A		PGS1-related disorder	Likely benign (Mar 01, 2019)
17-78423930-G-A			Likely benign (Feb 01, 2023)
17-78423949-G-A		Inborn genetic diseases	Uncertain significance (Nov 15, 2021)
17-78423949-G-C		Inborn genetic diseases	Uncertain significance (May 31, 2023)
17-78423949-G-T		Inborn genetic diseases	Uncertain significance (Apr 01, 2022)
17-78423965-T-C		Inborn genetic diseases	Uncertain significance (Jan 26, 2022)
17-78423983-A-G		Inborn genetic diseases	Uncertain significance (Jun 10, 2022)
17-78423999-G-A		DNAH17-related disorder	Likely benign (May 01, 2022)
17-78424004-T-C		DNAH17-related disorder	Benign (May 04, 2021)
17-78424017-C-A		DNAH17-related disorder	Likely benign (Jan 01, 2024)
17-78424052-G-A		Inborn genetic diseases	Uncertain significance (Oct 18, 2021)
17-78424076-A-T		Inborn genetic diseases	Uncertain significance (Sep 25, 2023)
17-78424079-T-C		Inborn genetic diseases	Uncertain significance (Sep 25, 2023)
17-78424111-C-T		Inborn genetic diseases	Uncertain significance (Jan 07, 2022)
17-78424112-G-A		DNAH17-related disorder	Likely benign (Nov 27, 2019)
17-78424292-G-A			Benign (May 11, 2021)
17-78424312-G-A			Benign (May 11, 2021)
17-78424356-T-A			Benign (May 11, 2021)
17-78425144-T-TG			Benign (May 12, 2021)
17-78425279-TTTATC-T			Benign (May 11, 2021)
17-78425362-G-A		not specified • DNAH17-related disorder	Benign (May 04, 2021)
17-78425383-C-T		not specified • DNAH17-related disorder	Benign (May 04, 2021)
17-78425386-A-G		not specified • DNAH17-related disorder	Benign (May 04, 2021)
17-78425388-G-A		Inborn genetic diseases	Uncertain significance (Sep 20, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DNAH17	protein_coding	protein_coding	ENST00000389840	80	153699

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.96e-63	1.00	125033	0	686	125719	0.00273

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-3.13	3061	2.61e+3	1.17	0.000169	29404
Missense in Polyphen		660	687.66	0.95977		7881
Synonymous	-10.5	1602	1.15e+3	1.40	0.0000879	8564
Loss of Function	4.67	134	206	0.649	0.0000104	2436

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00549	0.00543
Ashkenazi Jewish	0.00202	0.00199
East Asian	0.00317	0.00310
Finnish	0.00156	0.00148
European (Non-Finnish)	0.00323	0.00316
Middle Eastern	0.00317	0.00310
South Asian	0.00231	0.00226
Other	0.00315	0.00310

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Involved in sperm motility; implicated in sperm flagellar assembly (By similarity). {ECO:0000250}.
• Pathway: Huntington,s disease - Homo sapiens (human) (Consensus)

Haploinsufficiency Scores

• pHI: 0.100
• ghis: 0.378

Essentials

• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.205

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dnah17

Gene ontology

• Biological process: microtubule-based movement;cilium-dependent cell motility
• Cellular component: axonemal dynein complex;microtubule;dynein complex
• Molecular function: microtubule motor activity;ATP binding;ATP-dependent microtubule motor activity, minus-end-directed;dynein light chain binding;dynein intermediate chain binding;dynein light intermediate chain binding