DNAH7

dynein axonemal heavy chain 7, the group of Dyneins, axonemal inner arm I1/f complex subunits|EF-hand domain containing

Basic information

Region (hg38): 2:195737703-196068837

Links

ENSG00000118997 ∙ NCBI:56171 ∙ OMIM:610061 ∙ HGNC:18661 ∙ Uniprot:Q8WXX0 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• male infertility with azoospermia or oligozoospermia due to single gene mutation (Limited), mode of inheritance: AR
• ciliary dyskinesia, primary, 50 (Limited), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Ciliary dyskinesia, primary, 50	AR	Allergy/Immunology/Infectious; Pulmonary	Pulmonary surveillance may be beneficial to assess respiratory function and institute early management measures; Early and aggressive treatment of sinorespiratory infections may be beneficial	Allergy/Immunology/Infectious; Genitourinary; Pulmonary	34476482; 35543642

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DNAH7 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNAH7 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				22	10	32
missense			239	40	25	304
nonsense				4		4
start loss						0
frameshift		1	1	2		4
inframe indel						0
splice donor/acceptor (+/-2bp)		2	1			3
splice region			2	5	4	11
non coding				5	1	6
Total	0	3	241	73	36

Variants in DNAH7

This is a list of pathogenic ClinVar variants found in the DNAH7 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-195737912-G-A		DNAH7-related disorder	Likely benign (Oct 28, 2019)
2-195737943-A-G		not specified	Uncertain significance (Jul 09, 2021)
2-195737953-C-T		not specified	Uncertain significance (May 02, 2024)
2-195737955-C-T			Likely benign (Aug 20, 2018)
2-195738000-G-A		not specified	Uncertain significance (Mar 25, 2024)
2-195738049-G-A		Abdominal situs inversus;Primary ciliary dyskinesia	Benign (Jun 01, 2022)
2-195738062-A-T		DNAH7-related disorder	Likely benign (May 01, 2023)
2-195738085-G-A		not specified	Uncertain significance (Nov 30, 2021)
2-195738087-C-T		not specified	Uncertain significance (Dec 03, 2021)
2-195738105-C-T		not specified	Uncertain significance (Aug 08, 2023)
2-195738125-C-T		DNAH7-related disorder	Likely benign (Nov 11, 2022)
2-195740780-C-G		not specified	Uncertain significance (Jun 22, 2021)
2-195740780-C-T		not specified	Uncertain significance (Oct 26, 2021)
2-195754354-T-C		not specified	Uncertain significance (Sep 29, 2023)
2-195754381-T-C		DNAH7-related disorder	Likely benign (Jun 01, 2024)
2-195754406-G-T		not specified	Uncertain significance (Jul 06, 2021)
2-195754442-C-T		not specified	Uncertain significance (Sep 16, 2021)
2-195754459-G-A		not specified	Uncertain significance (Nov 03, 2023)
2-195756164-T-C			Benign (Dec 31, 2019)
2-195756195-G-C		not specified	Uncertain significance (Jul 20, 2021)
2-195756242-C-G		not specified	Uncertain significance (Mar 02, 2023)
2-195756282-G-A			Uncertain significance (Jul 01, 2024)
2-195756286-C-T			Uncertain significance (Apr 30, 2023)
2-195771688-G-A		not specified	Uncertain significance (Jun 09, 2022)
2-195771697-A-G		not specified	Uncertain significance (Feb 27, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DNAH7	protein_coding	protein_coding	ENST00000312428	65	331110

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.35e-71	0.0250	122061	19	2716	124796	0.0110

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.09	2195	2.06e+3	1.07	0.000106	26585
Missense in Polyphen		824	811.63	1.0152		10527
Synonymous	-0.635	737	715	1.03	0.0000366	7437
Loss of Function	3.50	140	192	0.728	0.0000104	2485

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0222	0.0219
Ashkenazi Jewish	0.0102	0.00998
East Asian	0.0142	0.0140
Finnish	0.0145	0.0143
European (Non-Finnish)	0.0111	0.0109
Middle Eastern	0.0142	0.0140
South Asian	0.00679	0.00643
Other	0.0125	0.0123

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 (By similarity). {ECO:0000250}.
• Pathway: Huntington,s disease - Homo sapiens (human) (Consensus)

Recessive Scores

• pRec: 0.104

Intolerance Scores

• loftool: 0.996
• rvis_EVS: 5.09
• rvis_percentile_EVS: 99.82

Haploinsufficiency Scores

• pHI: 0.239
• hipred: N
• hipred_score: 0.350
• ghis: 0.445

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.401

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dnah7c

Zebrafish Information Network

• Gene name: dnah7
• Affected structure: liver
• Phenotype tag: abnormal
• Phenotype quality: mislocalised

Gene ontology

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