MYO1B
Basic information
Region (hg38): 2:191245185-191425389
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYO1B 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 | 3 | |||||
missense | 46 | 48 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 46 | 1 | 4 |
Variants in MYO1B
This is a list of pathogenic ClinVar variants found in the MYO1B region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
2-191296145-C-T | not specified | Uncertain significance (Mar 22, 2023) | ||
2-191296213-C-T | Benign (Jan 08, 2018) | |||
2-191329939-G-T | not specified | Uncertain significance (Jul 12, 2023) | ||
2-191341496-G-A | not specified | Uncertain significance (Feb 14, 2023) | ||
2-191341545-A-G | not specified | Uncertain significance (Jan 22, 2024) | ||
2-191341554-C-T | not specified | Uncertain significance (Jan 26, 2022) | ||
2-191350184-T-G | not specified | Uncertain significance (Aug 02, 2021) | ||
2-191362286-G-C | not specified | Uncertain significance (Oct 22, 2021) | ||
2-191363732-C-T | not specified | Uncertain significance (Apr 13, 2022) | ||
2-191363820-C-G | not specified | Uncertain significance (May 09, 2024) | ||
2-191364176-A-G | not specified | Uncertain significance (May 26, 2024) | ||
2-191364181-A-G | not specified | Uncertain significance (Aug 17, 2022) | ||
2-191364184-G-A | not specified | Uncertain significance (May 26, 2024) | ||
2-191364256-A-G | not specified | Uncertain significance (Mar 24, 2023) | ||
2-191369609-G-A | not specified | Uncertain significance (Jan 26, 2023) | ||
2-191381551-G-C | not specified | Uncertain significance (Apr 25, 2022) | ||
2-191385942-C-T | not specified | Uncertain significance (Mar 01, 2024) | ||
2-191385986-C-T | not specified | Uncertain significance (Aug 17, 2021) | ||
2-191385999-A-G | not specified | Uncertain significance (Mar 28, 2024) | ||
2-191387248-G-A | not specified | Uncertain significance (Jan 27, 2022) | ||
2-191387309-A-G | not specified | Uncertain significance (Nov 08, 2022) | ||
2-191390304-G-A | Benign (Dec 31, 2019) | |||
2-191390422-T-G | not specified | Uncertain significance (Jan 23, 2023) | ||
2-191390444-A-G | not specified | Uncertain significance (Mar 07, 2024) | ||
2-191390479-A-C | not specified | Uncertain significance (Dec 14, 2022) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
MYO1B | protein_coding | protein_coding | ENST00000392318 | 30 | 180205 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.0000724 | 1.00 | 125699 | 0 | 49 | 125748 | 0.000195 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 2.43 | 446 | 616 | 0.724 | 0.0000332 | 7515 |
Missense in Polyphen | 168 | 259.8 | 0.64665 | 3214 | ||
Synonymous | -0.403 | 227 | 219 | 1.03 | 0.0000118 | 2050 |
Loss of Function | 5.54 | 22 | 73.1 | 0.301 | 0.00000410 | 848 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000361 | 0.000361 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.000164 | 0.000163 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.000283 | 0.000281 |
Middle Eastern | 0.000164 | 0.000163 |
South Asian | 0.0000981 | 0.0000980 |
Other | 0.000330 | 0.000326 |
dbNSFP
Source:
- Function
- FUNCTION: Motor protein that may participate in process critical to neuronal development and function such as cell migration, neurite outgrowth and vesicular transport. {ECO:0000250}.;
Recessive Scores
- pRec
- 0.142
Intolerance Scores
- loftool
- 0.0721
- rvis_EVS
- -1.22
- rvis_percentile_EVS
- 5.67
Haploinsufficiency Scores
- pHI
- 0.164
- hipred
- Y
- hipred_score
- 0.614
- ghis
- 0.572
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.899
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Myo1b
- Phenotype
Zebrafish Information Network
- Gene name
- myo1b
- Affected structure
- anterior axial hypoblast
- Phenotype tag
- abnormal
- Phenotype quality
- increased amount
Gene ontology
- Biological process
- post-Golgi vesicle-mediated transport;actin filament organization;actin filament-based movement;actin filament bundle assembly
- Cellular component
- cytoplasm;early endosome;actin filament;plasma membrane;brush border;endosome membrane;myosin complex;filopodium;trans-Golgi network membrane;apical part of cell;perinuclear region of cytoplasm;extracellular exosome;cell periphery
- Molecular function
- microfilament motor activity;calmodulin binding;ATP binding;phosphatidylinositol-4,5-bisphosphate binding;phosphatidylinositol-3,4,5-trisphosphate binding;actin-dependent ATPase activity;cadherin binding;actin filament binding