MRPS18C

mitochondrial ribosomal protein S18C, the group of Small subunit mitochondrial ribosomal proteins|Mitochondrial ribosomal proteins

Basic information

Region (hg38): 4:83455931-83469735

Links

ENSG00000163319 ∙ NCBI:51023 ∙ OMIM:611983 ∙ HGNC:16633 ∙ Uniprot:Q9Y3D5 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MRPS18C gene.

• Inborn genetic diseases (9 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MRPS18C 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			7	2		9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1	1
Total	0	0	7	2	1

Variants in MRPS18C

This is a list of pathogenic ClinVar variants found in the MRPS18C region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
4-83456087-G-T		not specified	Likely benign (Aug 16, 2022)
4-83456121-A-G		not specified	Uncertain significance (Jan 24, 2024)
4-83456130-A-C		not specified	Uncertain significance (Jul 08, 2022)
4-83456147-G-C		not specified	Uncertain significance (Mar 17, 2023)
4-83456171-C-T		not specified	Uncertain significance (Sep 28, 2022)
4-83459755-G-A		not specified	Likely benign (Sep 26, 2022)
4-83461030-T-C		not specified	Uncertain significance (Nov 04, 2022)
4-83461144-G-A		not specified	Uncertain significance (Sep 16, 2021)
4-83461184-G-C		not specified	Uncertain significance (Dec 21, 2022)
4-83461185-A-T		not specified	Uncertain significance (Aug 08, 2022)
4-83462219-TC-T			Benign (Jun 18, 2021)
4-83462476-G-A		not specified	Uncertain significance (Aug 26, 2023)
4-83462479-G-A		not specified	Uncertain significance (Jul 27, 2022)
4-83462482-G-A		not specified	Uncertain significance (Jun 23, 2022)
4-83462482-G-T		not specified	Uncertain significance (Feb 11, 2022)
4-83462485-C-G		not specified	Likely benign (Oct 22, 2023)
4-83462485-C-T		not specified	Conflicting classifications of pathogenicity (Oct 23, 2023)
4-83462486-G-A		Inborn genetic diseases	Uncertain significance (Jul 30, 2023)
4-83462488-G-A		not specified	Uncertain significance (Feb 13, 2022)
4-83462492-A-T		not specified	Uncertain significance (May 19, 2022)
4-83462493-T-C		not specified	Likely benign (Jun 30, 2022)
4-83462497-C-G		not specified	Uncertain significance (Mar 24, 2022)
4-83462498-C-T		not specified	Uncertain significance (May 01, 2022)
4-83462501-A-C		not specified	Uncertain significance (Apr 19, 2022)
4-83462504-C-T		not specified	Uncertain significance (Feb 13, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MRPS18C	protein_coding	protein_coding	ENST00000295491	6	13804

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000876	0.563	125658	0	65	125723	0.000259

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.431	66	76.6	0.862	0.00000343	923
Missense in Polyphen		12	18.796	0.63844		275
Synonymous	-0.843	30	24.7	1.22	0.00000107	256
Loss of Function	0.610	7	8.97	0.780	3.78e-7	113

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000328	0.000328
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000928	0.0000924
European (Non-Finnish)	0.000454	0.000449
Middle Eastern	0.00	0.00
South Asian	0.0000345	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Pathway: Ribosome - Homo sapiens (human);Mitochondrial translation initiation;Translation;Metabolism of proteins;Mitochondrial translation elongation;Mitochondrial translation termination;Mitochondrial translation (Consensus)

Recessive Scores

• pRec: 0.0807

Intolerance Scores

• loftool: 0.517
• rvis_EVS: 0.17
• rvis_percentile_EVS: 65.33

Haploinsufficiency Scores

• pHI: 0.0612
• hipred: N
• hipred_score: 0.231
• ghis: 0.503

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.754

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Mrps18c

Gene ontology

• Biological process: translation;mitochondrial translational elongation;mitochondrial translational termination
• Cellular component: mitochondrial inner membrane;mitochondrial small ribosomal subunit
• Molecular function: structural constituent of ribosome;small ribosomal subunit rRNA binding