MRPS12
Basic information
Region (hg38): 19:38930944-38933168
Previous symbols: [ "RPMS12" ]
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 MRPS12 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 | 1 | |||||
missense | 9 | |||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 9 | 1 | 0 |
Variants in MRPS12
This is a list of pathogenic ClinVar variants found in the MRPS12 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
19-38932339-C-T | not specified | Uncertain significance (Apr 28, 2023) | ||
19-38932407-C-T | not specified | Uncertain significance (May 31, 2023) | ||
19-38932418-G-A | Likely benign (Mar 01, 2023) | |||
19-38932422-C-T | not specified | Uncertain significance (Sep 06, 2022) | ||
19-38932427-G-T | not specified | Uncertain significance (Nov 17, 2022) | ||
19-38932476-A-G | not specified | Uncertain significance (Apr 07, 2022) | ||
19-38932548-C-T | not specified | Uncertain significance (Jul 16, 2021) | ||
19-38932549-G-A | not specified | Uncertain significance (Nov 09, 2023) | ||
19-38932618-G-A | not specified | Uncertain significance (Oct 02, 2023) | ||
19-38932695-A-G | not specified | Uncertain significance (Mar 07, 2024) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
MRPS12 | protein_coding | protein_coding | ENST00000407800 | 2 | 2615 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.000204 | 0.302 | 125712 | 0 | 14 | 125726 | 0.0000557 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.420 | 86 | 97.7 | 0.880 | 0.00000715 | 862 |
Missense in Polyphen | 26 | 39.684 | 0.65517 | 408 | ||
Synonymous | -0.850 | 48 | 41.1 | 1.17 | 0.00000264 | 313 |
Loss of Function | -0.423 | 5 | 4.08 | 1.23 | 2.39e-7 | 42 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000155 | 0.000150 |
Ashkenazi Jewish | 0.000199 | 0.000198 |
East Asian | 0.000110 | 0.000109 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.0000444 | 0.0000440 |
Middle Eastern | 0.000110 | 0.000109 |
South Asian | 0.0000327 | 0.0000327 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Pathway
- Ribosome - Homo sapiens (human);Mitochondrial translation initiation;Translation;Metabolism of proteins;Mitochondrial translation elongation;Mitochondrial translation termination;Mitochondrial translation
(Consensus)
Recessive Scores
- pRec
- 0.175
Intolerance Scores
- loftool
- 0.734
- rvis_EVS
- -0.14
- rvis_percentile_EVS
- 43.29
Haploinsufficiency Scores
- pHI
- 0.319
- hipred
- Y
- hipred_score
- 0.612
- ghis
- 0.594
Essentials
- essential_gene_CRISPR
- E
- essential_gene_CRISPR2
- E
- essential_gene_gene_trap
- E
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.994
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Mrps12
- Phenotype
Gene ontology
- Biological process
- translation;mitochondrial translation;mitochondrial translational elongation;mitochondrial translational termination
- Cellular component
- mitochondrial inner membrane;mitochondrial ribosome;mitochondrial small ribosomal subunit
- Molecular function
- RNA binding;structural constituent of ribosome;protein binding