MYL11
Basic information
Region (hg38): 16:30370934-30377991
Previous symbols: [ "MYLPF" ]
Links
Phenotypes
GenCC
Source:
- arthrogryposis, distal, type 1C (Strong), mode of inheritance: AR
- arthrogryposis, distal, type 1C (Strong), mode of inheritance: AD
Clinical Genomic Database
Source:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Arthrogryposis, distal, type 1C | AD/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 | 32707087 |
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 MYL11 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 | 0 | |||||
missense | 17 | 17 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 1 | |||||
inframe indel | 1 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 19 | 0 | 0 |
Variants in MYL11
This is a list of pathogenic ClinVar variants found in the MYL11 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
16-30375848-T-C | not specified | Likely benign (Jan 09, 2025) | ||
16-30375853-G-A | not specified | Uncertain significance (Jul 17, 2024) | ||
16-30375860-G-C | not specified | Uncertain significance (Jan 24, 2024) | ||
16-30375890-C-A | Arthrogryposis, distal, type 1C | Uncertain significance (Mar 11, 2024) | ||
16-30375897-C-G | not specified | Uncertain significance (Dec 01, 2022) | ||
16-30376146-C-T | Distal arthrogryposis • Arthrogryposis, distal, type 1C | Pathogenic/Likely pathogenic (Nov 30, 2020) | ||
16-30376200-G-A | not specified | Uncertain significance (Jun 22, 2021) | ||
16-30376425-C-T | not specified | Uncertain significance (Aug 17, 2021) | ||
16-30376426-G-A | not specified | Uncertain significance (May 15, 2024) | ||
16-30376432-A-G | not specified | Uncertain significance (Dec 15, 2023) | ||
16-30376504-C-G | not specified | Uncertain significance (Feb 15, 2023) | ||
16-30376511-C-G | not specified | Uncertain significance (Jan 03, 2024) | ||
16-30376526-G-C | not specified | Uncertain significance (Nov 20, 2023) | ||
16-30376529-T-C | Arthrogryposis, distal, type 1C | Uncertain significance (Jul 30, 2021) | ||
16-30376623-C-CCGACCCTGAGGATGTGAT | Arthrogryposis, distal, type 1C | Uncertain significance (May 10, 2022) | ||
16-30376644-C-A | not specified | Uncertain significance (Aug 04, 2023) | ||
16-30376646-G-A | not specified | Uncertain significance (Nov 19, 2024) | ||
16-30376692-A-G | not specified | Uncertain significance (Jul 12, 2022) | ||
16-30377806-T-TGTGGGCGGCCTTCCCCCCCGAC | not specified | Uncertain significance (Jul 11, 2024) | ||
16-30377821-C-A | Uncertain significance (-) | |||
16-30377824-C-A | not specified | Uncertain significance (Jun 26, 2024) | ||
16-30377824-C-T | not specified | Uncertain significance (May 23, 2023) | ||
16-30377859-T-C | Distal arthrogryposis • Arthrogryposis, distal, type 1C | Pathogenic/Likely pathogenic (Apr 13, 2022) | ||
16-30377860-G-T | Distal arthrogryposis • Arthrogryposis, distal, type 1C | Pathogenic/Likely pathogenic (Apr 13, 2022) | ||
16-30377877-G-A | Distal arthrogryposis • Arthrogryposis, distal, type 1C | Pathogenic/Likely pathogenic (Nov 30, 2020) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
MYL11 | protein_coding | protein_coding | ENST00000322861 | 7 | 7058 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.760 | 0.238 | 125726 | 0 | 10 | 125736 | 0.0000398 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.650 | 88 | 107 | 0.823 | 0.00000589 | 1143 |
Missense in Polyphen | 24 | 45.599 | 0.52633 | 487 | ||
Synonymous | 0.637 | 37 | 42.3 | 0.875 | 0.00000266 | 293 |
Loss of Function | 2.48 | 1 | 9.07 | 0.110 | 3.82e-7 | 117 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.0000616 | 0.0000615 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.0000544 | 0.0000544 |
Finnish | 0.0000462 | 0.0000462 |
European (Non-Finnish) | 0.0000617 | 0.0000615 |
Middle Eastern | 0.0000544 | 0.0000544 |
South Asian | 0.00 | 0.00 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Pathway
- Focal adhesion - Homo sapiens (human);Regulation of actin cytoskeleton - Homo sapiens (human);Leukocyte transendothelial migration - Homo sapiens (human);Focal Adhesion;Smooth Muscle Contraction;Muscle contraction;ErbB1 downstream signaling
(Consensus)
Intolerance Scores
- loftool
- 0.513
- rvis_EVS
- -0.27
- rvis_percentile_EVS
- 33.97
Haploinsufficiency Scores
- pHI
- hipred
- N
- hipred_score
- 0.319
- ghis
- 0.584
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.801
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Mylpf
- Phenotype
- mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); respiratory system phenotype; muscle phenotype; growth/size/body region phenotype;
Gene ontology
- Biological process
- muscle contraction;immune response;skeletal muscle tissue development
- Cellular component
- lysosomal membrane;cytosol;muscle myosin complex
- Molecular function
- calcium ion binding;structural constituent of muscle