CMC1

C-X9-C motif containing 1, the group of Mitochondrial respiratory chain complex assembly factors

Basic information

Region (hg38): 3:28241583-28325142

Previous symbols: [ "C3orf68" ]

Links

ENSG00000187118 ∙ NCBI:152100 ∙ OMIM:615166 ∙ HGNC:28783 ∙ Uniprot:Q7Z7K0 ∙ 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 CMC1 gene.

• Inborn genetic diseases (8 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CMC1 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			5			5
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			3			3
Total	0	0	8	0	0

Variants in CMC1

This is a list of pathogenic ClinVar variants found in the CMC1 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-28263303-G-C		not specified	Uncertain significance (Mar 16, 2022)
3-28263338-A-G		not specified	Uncertain significance (Aug 19, 2021)
3-28316348-G-A		not specified	Uncertain significance (Jun 09, 2022)
3-28316351-A-G		not specified	Uncertain significance (Aug 14, 2023)
3-28319562-G-T		not specified	Uncertain significance (Feb 22, 2023)
3-28319566-A-C		not specified	Uncertain significance (Jun 29, 2022)
3-28319604-T-C		not specified	Uncertain significance (Jan 19, 2024)
3-28324050-T-C		not specified	Uncertain significance (Sep 26, 2023)
3-28324203-C-T		not specified	Uncertain significance (Dec 01, 2022)
3-28324296-C-A		not specified	Uncertain significance (Nov 14, 2023)
3-28324421-C-A		not specified	Uncertain significance (Feb 10, 2022)
3-28324442-A-G		not specified	Uncertain significance (Jan 19, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CMC1	protein_coding	protein_coding	ENST00000466830	4	83559

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.107	0.786	125559	0	16	125575	0.0000637

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0347	49	49.7	0.986	0.00000232	704
Missense in Polyphen		16	16.153	0.99054		223
Synonymous	0.206	14	15.0	0.932	6.47e-7	172
Loss of Function	1.26	2	5.05	0.396	2.10e-7	82

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000467	0.000461
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000628	0.0000616
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly. {ECO:0000250}.

Recessive Scores

• pRec: 0.0590

Intolerance Scores

• loftool: 0.662
• rvis_EVS: -0.03
• rvis_percentile_EVS: 51.04

Haploinsufficiency Scores

• pHI: 0.0480
• hipred: N
• hipred_score: 0.198
• ghis: 0.541

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0311

Mouse Genome Informatics

• Gene name: Cmc1

Gene ontology

• Cellular component: mitochondrion
• Molecular function: metal ion binding