RPL3L
Basic information
Region (hg38): 16:1943973-1957606
Links
Phenotypes
GenCC
Source:
- dilated cardiomyopathy (Limited), mode of inheritance: AR
- cardiomyopathy, dilated, 2D (Limited), mode of inheritance: AR
- cardiomyopathy, dilated, 2D (Strong), mode of inheritance: AR
- cardiomyopathy, dilated, 2D (Limited), mode of inheritance: AR
Clinical Genomic Database
Source:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Cardiomyopathy, dilated, 2D | AR | Cardiovascular | The condition involves severe, early onset dilated cardiomyopathy, and awareness may enable early interventions related to cardiac disease; Cardiac transplant has been described | Cardiovascular | 32514796; 32870709 |
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 RPL3L 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 | 2 | |||||
missense | 58 | 65 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 1 | |||||
inframe indel | 1 | |||||
splice donor/acceptor (+/-2bp) | 1 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 1 | 61 | 6 | 2 |
Variants in RPL3L
This is a list of pathogenic ClinVar variants found in the RPL3L region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
16-1944859-G-A | Cardiomyopathy, dilated, 2D | Uncertain significance (Feb 20, 2024) | ||
16-1945498-C-T | Uncertain significance (Jan 28, 2023) | |||
16-1945539-T-C | not specified | Uncertain significance (Mar 20, 2023) | ||
16-1945585-CCACGG-C | Cardiomyopathy, dilated, 2D | Uncertain significance (Feb 05, 2024) | ||
16-1945588-C-T | Likely benign (Jan 19, 2018) | |||
16-1945596-C-T | not specified | Uncertain significance (Jan 03, 2024) | ||
16-1945597-G-A | not specified | Uncertain significance (May 04, 2022) | ||
16-1945606-G-A | not specified | Uncertain significance (Dec 20, 2021) | ||
16-1945855-G-A | Cardiomyopathy, dilated, 2D | Pathogenic (Jun 06, 2021) | ||
16-1945869-G-C | Likely benign (Aug 01, 2023) | |||
16-1945880-C-G | not specified | Uncertain significance (Dec 21, 2022) | ||
16-1945897-C-T | not specified | Uncertain significance (May 30, 2023) | ||
16-1946653-T-A | Cardiomyopathy, dilated, 2D | Pathogenic (Jun 06, 2021) | ||
16-1946654-C-T | Cardiomyopathy, dilated, 2D • not specified | Uncertain significance (Jun 09, 2023) | ||
16-1946658-G-T | not specified | Uncertain significance (Sep 06, 2022) | ||
16-1946671-T-C | not specified | Uncertain significance (Nov 12, 2021) | ||
16-1946677-T-C | not specified | Uncertain significance (May 04, 2023) | ||
16-1946719-C-T | not specified | Uncertain significance (May 30, 2023) | ||
16-1946954-G-A | not specified | Uncertain significance (May 08, 2024) | ||
16-1946957-C-T | not specified | Uncertain significance (Mar 29, 2024) | ||
16-1946958-G-A | Cardiomyopathy, dilated, 2D • not specified | Uncertain significance (Apr 11, 2023) | ||
16-1946966-T-C | not specified | Uncertain significance (Mar 07, 2024) | ||
16-1946979-C-T | Cardiomyopathy, dilated, 2D | Uncertain significance (Mar 27, 2023) | ||
16-1947002-A-G | not specified | Uncertain significance (Aug 06, 2021) | ||
16-1947005-C-T | not specified | Uncertain significance (Aug 13, 2021) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
RPL3L | protein_coding | protein_coding | ENST00000268661 | 10 | 13633 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
4.95e-16 | 0.00347 | 125355 | 1 | 390 | 125746 | 0.00156 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -0.686 | 301 | 269 | 1.12 | 0.0000181 | 2642 |
Missense in Polyphen | 74 | 75.228 | 0.98368 | 752 | ||
Synonymous | -2.58 | 150 | 115 | 1.31 | 0.00000825 | 811 |
Loss of Function | -0.531 | 22 | 19.5 | 1.13 | 0.00000102 | 219 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00274 | 0.00271 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.000708 | 0.000707 |
Finnish | 0.000518 | 0.000508 |
European (Non-Finnish) | 0.00242 | 0.00233 |
Middle Eastern | 0.000708 | 0.000707 |
South Asian | 0.000687 | 0.000653 |
Other | 0.00150 | 0.00147 |
dbNSFP
Source:
- Pathway
- Ribosome - Homo sapiens (human);Cytoplasmic Ribosomal Proteins;SRP-dependent cotranslational protein targeting to membrane;Eukaryotic Translation Initiation;Eukaryotic Translation Termination;Translation;Selenocysteine synthesis;Metabolism of proteins;Metabolism of amino acids and derivatives;Metabolism of RNA;Formation of a pool of free 40S subunits;Metabolism;Nonsense-Mediated Decay (NMD);Selenoamino acid metabolism;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Peptide chain elongation;Eukaryotic Translation Elongation;GTP hydrolysis and joining of the 60S ribosomal subunit;Cap-dependent Translation Initiation
(Consensus)
Recessive Scores
- pRec
- 0.152
Intolerance Scores
- loftool
- rvis_EVS
- 0.76
- rvis_percentile_EVS
- 86.85
Haploinsufficiency Scores
- pHI
- 0.846
- hipred
- Y
- hipred_score
- 0.675
- ghis
- 0.488
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.839
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Rpl3l
- Phenotype
Gene ontology
- Biological process
- ribosomal large subunit assembly;translation
- Cellular component
- ribosome;membrane;cytosolic large ribosomal subunit
- Molecular function
- RNA binding;structural constituent of ribosome