DNAH3
Basic information
Region (hg38): 16:20933111-21159441
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Spermatogenic failure 18 (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNAH3 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 | 15 | 11 | 26 | |||
missense | 255 | 23 | 286 | |||
nonsense | 1 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 2 | 3 | 5 | |||
non coding | 0 | |||||
Total | 1 | 3 | 255 | 38 | 16 |
Highest pathogenic variant AF is 0.0000526
Variants in DNAH3
This is a list of pathogenic ClinVar variants found in the DNAH3 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
16-20933162-C-T | not specified | Uncertain significance (Aug 02, 2023) | ||
16-20933198-A-G | not specified | Uncertain significance (Feb 21, 2024) | ||
16-20933219-T-C | not specified | Uncertain significance (Jan 22, 2024) | ||
16-20933226-C-G | not specified | Uncertain significance (Jan 24, 2024) | ||
16-20933237-G-A | not specified | Uncertain significance (Oct 03, 2022) | ||
16-20933306-A-C | not specified | Uncertain significance (May 13, 2024) | ||
16-20933391-G-A | Benign (Dec 31, 2019) | |||
16-20933462-C-G | not specified | Uncertain significance (Aug 02, 2021) | ||
16-20933475-G-C | not specified | Uncertain significance (Jun 22, 2023) | ||
16-20935342-C-T | Benign (Sep 01, 2017) | |||
16-20935380-T-C | Intellectual disability | Uncertain significance (Oct 16, 2020) | ||
16-20935391-C-T | not specified | Uncertain significance (Sep 16, 2021) | ||
16-20935410-C-T | not specified | Uncertain significance (Oct 03, 2022) | ||
16-20936782-G-A | not specified | Uncertain significance (Jan 10, 2022) | ||
16-20936837-G-A | not specified | Uncertain significance (Oct 26, 2022) | ||
16-20936845-T-C | not specified | Uncertain significance (Mar 06, 2023) | ||
16-20941452-T-C | not specified | Uncertain significance (Jan 06, 2023) | ||
16-20941474-T-A | not specified | Uncertain significance (Jul 14, 2021) | ||
16-20941519-C-A | not specified | Uncertain significance (Nov 09, 2021) | ||
16-20944531-G-C | not specified | Uncertain significance (Aug 08, 2022) | ||
16-20944609-C-T | not specified | Uncertain significance (Apr 09, 2024) | ||
16-20944650-T-C | not specified | Uncertain significance (Apr 15, 2024) | ||
16-20948527-C-T | not specified | Uncertain significance (Dec 14, 2022) | ||
16-20948608-C-T | not specified | Uncertain significance (Dec 02, 2021) | ||
16-20952443-G-C | Benign (Dec 31, 2019) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
DNAH3 | protein_coding | protein_coding | ENST00000261383 | 62 | 226330 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
1.54e-64 | 0.859 | 124711 | 1 | 1036 | 125748 | 0.00413 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.0299 | 2256 | 2.26e+3 | 0.998 | 0.000129 | 27273 |
Missense in Polyphen | 846 | 869.11 | 0.97341 | 10465 | ||
Synonymous | -2.13 | 970 | 889 | 1.09 | 0.0000555 | 7742 |
Loss of Function | 3.96 | 132 | 191 | 0.691 | 0.00000985 | 2291 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00758 | 0.00728 |
Ashkenazi Jewish | 0.000796 | 0.000794 |
East Asian | 0.00333 | 0.00332 |
Finnish | 0.0124 | 0.0124 |
European (Non-Finnish) | 0.00386 | 0.00379 |
Middle Eastern | 0.00333 | 0.00332 |
South Asian | 0.00269 | 0.00262 |
Other | 0.00326 | 0.00326 |
dbNSFP
Source:
- 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);lissencephaly gene (lis1) in neuronal migration and development
(Consensus)
Recessive Scores
- pRec
- 0.125
Intolerance Scores
- loftool
- 0.980
- rvis_EVS
- -1.47
- rvis_percentile_EVS
- 3.73
Haploinsufficiency Scores
- pHI
- 0.197
- hipred
- N
- hipred_score
- 0.492
- ghis
- 0.406
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.200
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | High | High | High |
Primary Immunodeficiency | High | High | High |
Cancer | High | High | High |
Mouse Genome Informatics
- Gene name
- Dnah3
- Phenotype
Gene ontology
- Biological process
- cilium movement;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