DYNLT2B
Basic information
Region (hg38): 3:196291219-196318299
Previous symbols: [ "TCTEX1D2" ]
Links
Phenotypes
GenCC
Source:
- short-rib thoracic dysplasia 17 with or without polydactyly (Strong), mode of inheritance: AR
Clinical Genomic Database
Source:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Short-rib thoracic dysplasia 17 with or without polydactyly | 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 | Musculoskeletal | 27021811 |
ClinVar
This is a list of variants' phenotypes submitted to
- not provided (2 variants)
- Short-rib thoracic dysplasia 17 with or without polydactyly (2 variants)
- Asphyxiating thoracic dystrophy 3 (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the DYNLT2B 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 | 7 | |||||
missense | 19 | 21 | ||||
nonsense | 1 | |||||
start loss | 0 | |||||
frameshift | 1 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 1 | |||||
splice region | 1 | 4 | 2 | 7 | ||
non coding | 11 | 19 | ||||
Total | 2 | 0 | 22 | 17 | 9 |
Highest pathogenic variant AF is 0.0000329
Variants in DYNLT2B
This is a list of pathogenic ClinVar variants found in the DYNLT2B region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
3-196291331-T-C | Uncertain significance (Jan 22, 2024) | |||
3-196291359-C-T | Uncertain significance (Dec 12, 2021) | |||
3-196291379-A-G | Uncertain significance (May 28, 2022) | |||
3-196291390-AAC-A | Likely benign (Aug 01, 2023) | |||
3-196295879-T-C | Benign (May 15, 2021) | |||
3-196295997-T-C | Likely benign (Oct 29, 2022) | |||
3-196296015-A-G | Likely benign (Apr 23, 2023) | |||
3-196296026-T-C | not specified | Uncertain significance (Jun 28, 2023) | ||
3-196296031-T-C | Uncertain significance (Oct 24, 2022) | |||
3-196296055-C-T | not specified | Uncertain significance (Nov 12, 2021) | ||
3-196296058-C-T | not specified | Uncertain significance (Oct 14, 2023) | ||
3-196296059-G-A | DYNLT2B-related disorder | Likely benign (Jan 29, 2024) | ||
3-196296081-A-G | Likely benign (Jan 18, 2023) | |||
3-196296089-A-G | Likely benign (Apr 04, 2022) | |||
3-196296090-G-T | Benign (May 19, 2021) | |||
3-196296136-C-T | Benign (May 19, 2021) | |||
3-196306926-A-C | Likely benign (Apr 29, 2021) | |||
3-196306938-C-T | DYNLT2B-related disorder | Uncertain significance (Oct 12, 2022) | ||
3-196306939-T-A | Asphyxiating thoracic dystrophy 3 • Short-rib thoracic dysplasia 17 with or without polydactyly | Pathogenic (Mar 14, 2024) | ||
3-196306945-T-C | Likely benign (Dec 05, 2023) | |||
3-196306971-T-A | Uncertain significance (Oct 18, 2022) | |||
3-196306975-T-C | Likely benign (Sep 20, 2021) | |||
3-196306977-C-G | Uncertain significance (Aug 04, 2023) | |||
3-196306985-A-G | Uncertain significance (Jul 19, 2022) | |||
3-196306988-A-G | not specified | Uncertain significance (Dec 27, 2023) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
DYNLT2B | protein_coding | protein_coding | ENST00000325318 | 5 | 27081 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.000321 | 0.603 | 125734 | 0 | 12 | 125746 | 0.0000477 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.01 | 48 | 72.0 | 0.667 | 0.00000333 | 924 |
Missense in Polyphen | 13 | 21.466 | 0.60562 | 276 | ||
Synonymous | 0.697 | 20 | 24.4 | 0.820 | 0.00000115 | 249 |
Loss of Function | 0.612 | 6 | 7.85 | 0.764 | 4.17e-7 | 96 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000210 | 0.000210 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00 | 0.00 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.0000440 | 0.0000439 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.0000327 | 0.0000327 |
Other | 0.000163 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: Required for proper retrograde ciliary transport. {ECO:0000269|PubMed:26044572}.;
- Disease
- DISEASE: Short-rib thoracic dysplasia 17 with or without polydactyly (SRTD17) [MIM:617405]: A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. {ECO:0000269|PubMed:26044572}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
- Pathway
- Intraflagellar transport;Cilium Assembly;Organelle biogenesis and maintenance
(Consensus)
Intolerance Scores
- loftool
- rvis_EVS
- 0.28
- rvis_percentile_EVS
- 71.08
Haploinsufficiency Scores
- pHI
- 0.202
- hipred
- N
- hipred_score
- 0.146
- ghis
- 0.521
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.341
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Tctex1d2
- Phenotype
- skeleton phenotype; immune system phenotype; hematopoietic system phenotype;
Zebrafish Information Network
- Gene name
- tctex1d2
- Affected structure
- otolith
- Phenotype tag
- abnormal
- Phenotype quality
- morphology
Gene ontology
- Biological process
- cilium assembly;regulation of cilium assembly;regulation of intraciliary retrograde transport
- Cellular component
- spindle pole;centrosome;cytoplasmic dynein complex;axoneme;interphase microtubule organizing center;ciliary base
- Molecular function
- protein binding;dynein intermediate chain binding