MYH13
Basic information
Region (hg38): 17:10300865-10373130
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 MYH13 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 | 4 | |||||
missense | 132 | 139 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 2 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 1 | 1 | ||||
non coding | 1 | |||||
Total | 0 | 0 | 132 | 12 | 2 |
Variants in MYH13
This is a list of pathogenic ClinVar variants found in the MYH13 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
17-10301618-T-A | not specified | Uncertain significance (Sep 09, 2021) | ||
17-10301640-C-T | not specified | Uncertain significance (Feb 15, 2023) | ||
17-10303257-T-A | not specified | Uncertain significance (Jan 30, 2024) | ||
17-10303277-G-T | not specified | Uncertain significance (Oct 26, 2022) | ||
17-10303286-C-G | not specified | Uncertain significance (Dec 03, 2021) | ||
17-10303405-T-C | not specified | Uncertain significance (May 08, 2023) | ||
17-10303408-C-G | not specified | Uncertain significance (Jan 03, 2024) | ||
17-10303494-C-T | not specified | Uncertain significance (Feb 03, 2022) | ||
17-10306491-C-T | not specified | Uncertain significance (Sep 12, 2023) | ||
17-10306496-T-C | not specified | Uncertain significance (May 03, 2023) | ||
17-10306502-G-A | not specified | Uncertain significance (Aug 12, 2021) | ||
17-10306541-T-G | not specified | Uncertain significance (Aug 12, 2021) | ||
17-10306547-G-A | not specified | Uncertain significance (Nov 08, 2022) | ||
17-10306571-C-T | not specified | Uncertain significance (Jan 19, 2024) | ||
17-10306572-G-A | not specified | Uncertain significance (Oct 17, 2023) | ||
17-10306599-C-T | MYH13-related disorder | Likely benign (Apr 06, 2022) | ||
17-10306943-G-A | not specified | Uncertain significance (Nov 14, 2023) | ||
17-10307001-C-T | not specified | Uncertain significance (Feb 14, 2023) | ||
17-10307064-T-C | not specified | Uncertain significance (May 28, 2024) | ||
17-10309279-C-G | not specified | Uncertain significance (Aug 09, 2021) | ||
17-10309305-C-T | not specified | Uncertain significance (Aug 15, 2023) | ||
17-10309383-G-T | not specified | Uncertain significance (May 24, 2024) | ||
17-10309386-C-T | MYH13-related disorder • not specified | Uncertain significance (Nov 08, 2022) | ||
17-10309392-G-A | not specified | Uncertain significance (Jan 03, 2022) | ||
17-10309400-T-C | not specified | Benign (Dec 12, 2023) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
MYH13 | protein_coding | protein_coding | ENST00000418404 | 39 | 75047 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
8.05e-40 | 0.0771 | 125061 | 1 | 686 | 125748 | 0.00274 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.105 | 1079 | 1.09e+3 | 0.991 | 0.0000658 | 12876 |
Missense in Polyphen | 458 | 459.22 | 0.99734 | 5901 | ||
Synonymous | 0.153 | 438 | 442 | 0.991 | 0.0000289 | 3458 |
Loss of Function | 2.45 | 76 | 103 | 0.739 | 0.00000514 | 1254 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00517 | 0.00507 |
Ashkenazi Jewish | 0.000298 | 0.000298 |
East Asian | 0.00507 | 0.00501 |
Finnish | 0.00203 | 0.00203 |
European (Non-Finnish) | 0.00205 | 0.00203 |
Middle Eastern | 0.00507 | 0.00501 |
South Asian | 0.00674 | 0.00672 |
Other | 0.00230 | 0.00228 |
dbNSFP
Source:
- Function
- FUNCTION: Fast twitching myosin mediating the high-velocity and low-tension contractions of specific striated muscles. {ECO:0000269|PubMed:23908353}.;
- Pathway
- Tight junction - Homo sapiens (human)
(Consensus)
Recessive Scores
- pRec
- 0.188
Intolerance Scores
- loftool
- rvis_EVS
- -0.64
- rvis_percentile_EVS
- 16.74
Haploinsufficiency Scores
- pHI
- 0.486
- hipred
- Y
- hipred_score
- 0.509
- ghis
- 0.560
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.704
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | High | High | High |
Primary Immunodeficiency | High | High | High |
Cancer | High | High | High |
Mouse Genome Informatics
- Gene name
- Myh13
- Phenotype
Gene ontology
- Biological process
- muscle contraction;cellular response to starvation
- Cellular component
- muscle myosin complex;myofibril;myosin filament;extracellular exosome
- Molecular function
- microfilament motor activity;calmodulin binding;ATP binding;actin filament binding