DNAH2
Basic information
Region (hg38): 17:7717744-7833742
Previous symbols: [ "DNHD3" ]
Links
Phenotypes
GenCC
Source:
- spermatogenic failure 45 (Limited), mode of inheritance: AR
- spermatogenic failure 45 (Moderate), mode of inheritance: AR
Clinical Genomic Database
Source:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Spermatogenic failure 45 | 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 | 30811583 |
ClinVar
This is a list of variants' phenotypes submitted to
- Spermatogenic failure 45 (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNAH2 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 | 41 | 19 | 60 | |||
missense | 251 | 27 | 26 | 304 | ||
nonsense | 1 | |||||
start loss | 0 | |||||
frameshift | 3 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 1 | |||||
splice region | 6 | 6 | 12 | |||
non coding | 8 | |||||
Total | 1 | 1 | 251 | 76 | 48 |
Highest pathogenic variant AF is 0.00000658
Variants in DNAH2
This is a list of pathogenic ClinVar variants found in the DNAH2 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
17-7719726-G-T | DNAH2-related disorder | Likely benign (Mar 28, 2019) | ||
17-7719796-G-C | Inborn genetic diseases | Uncertain significance (Aug 17, 2022) | ||
17-7719804-C-T | Inborn genetic diseases | Uncertain significance (Jan 23, 2023) | ||
17-7719879-G-A | Inborn genetic diseases | Uncertain significance (Dec 01, 2022) | ||
17-7719882-C-T | Inborn genetic diseases | Uncertain significance (Sep 14, 2022) | ||
17-7719886-C-G | Inborn genetic diseases | Uncertain significance (Mar 07, 2024) | ||
17-7727141-G-A | Inborn genetic diseases | Uncertain significance (Oct 29, 2021) | ||
17-7727148-G-A | DNAH2-related disorder | Benign (Aug 28, 2019) | ||
17-7727187-T-C | not specified • DNAH2-related disorder | Benign (Mar 29, 2016) | ||
17-7727234-T-A | Inborn genetic diseases | Uncertain significance (Sep 25, 2024) | ||
17-7733090-C-A | Inborn genetic diseases | Uncertain significance (Feb 23, 2023) | ||
17-7733098-G-T | Inborn genetic diseases | Uncertain significance (Dec 11, 2023) | ||
17-7733155-A-T | DNAH2-related disorder | Likely benign (Nov 01, 2024) | ||
17-7733168-G-A | Inborn genetic diseases | Uncertain significance (Sep 27, 2024) | ||
17-7733168-G-C | Inborn genetic diseases | Uncertain significance (Sep 13, 2023) | ||
17-7733179-G-A | not specified • DNAH2-related disorder | Likely benign (Mar 29, 2016) | ||
17-7733193-C-T | Inborn genetic diseases | Uncertain significance (Dec 27, 2023) | ||
17-7733204-C-T | Inborn genetic diseases | Uncertain significance (Feb 16, 2023) | ||
17-7733241-C-A | Inborn genetic diseases | Uncertain significance (Aug 10, 2023) | ||
17-7733279-G-T | Inborn genetic diseases | Uncertain significance (Feb 22, 2023) | ||
17-7733288-C-A | Inborn genetic diseases | Uncertain significance (May 31, 2023) | ||
17-7734236-A-G | Inborn genetic diseases | Uncertain significance (Sep 26, 2023) | ||
17-7734243-T-A | Inborn genetic diseases | Uncertain significance (Feb 14, 2024) | ||
17-7734248-C-T | Inborn genetic diseases | Uncertain significance (Jan 08, 2024) | ||
17-7734284-C-T | Primary microcephaly | Uncertain significance (Dec 01, 2020) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
DNAH2 | protein_coding | protein_coding | ENST00000572933 | 85 | 116391 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
1.30e-44 | 1.00 | 124840 | 2 | 906 | 125748 | 0.00362 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.88 | 2317 | 2.59e+3 | 0.896 | 0.000164 | 29061 |
Missense in Polyphen | 878 | 1037.6 | 0.84615 | 11963 | ||
Synonymous | -0.286 | 1022 | 1.01e+3 | 1.01 | 0.0000623 | 8628 |
Loss of Function | 7.41 | 115 | 238 | 0.482 | 0.0000132 | 2584 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00437 | 0.00431 |
Ashkenazi Jewish | 0.00527 | 0.00527 |
East Asian | 0.000652 | 0.000653 |
Finnish | 0.00390 | 0.00389 |
European (Non-Finnish) | 0.00472 | 0.00469 |
Middle Eastern | 0.000652 | 0.000653 |
South Asian | 0.00318 | 0.00317 |
Other | 0.00294 | 0.00294 |
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)
(Consensus)
Recessive Scores
- pRec
- 0.0978
Intolerance Scores
- loftool
- 0.885
- rvis_EVS
- -2.39
- rvis_percentile_EVS
- 1.09
Haploinsufficiency Scores
- pHI
- 0.104
- hipred
- Y
- hipred_score
- 0.576
- ghis
- 0.440
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.150
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | High | High | High |
Primary Immunodeficiency | High | High | High |
Cancer | High | High | High |
Mouse Genome Informatics
- Gene name
- Dnah2
- Phenotype
Gene ontology
- Biological process
- microtubule-based movement;cilium-dependent cell motility
- Cellular component
- axonemal dynein complex;microtubule;dynein complex;motile cilium
- 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