ClinVar Genomic variation as it relates to human health
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- Interpretation:
-
Pathogenic
- Review status:
- no assertion criteria provided
- Submissions:
- 1
- First in ClinVar:
- Jun 10, 2022
- Most recent Submission:
- Jun 10, 2022
- Last evaluated:
- Jun 4, 2022
- Accession:
- VCV001120203.2
- Variation ID:
- 1120203
- Description:
- single nucleotide variant
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NM_016468.7(COX16):c.244C>T (p.Arg82Ter)
- Allele ID
- 1109021
- Variant type
- single nucleotide variant
- Variant length
- 1 bp
- Cytogenetic location
- 14q24.2
- Genomic location
- 14: 70326410 (GRCh38) GRCh38 UCSC
- 14: 70793127 (GRCh37) GRCh37 UCSC
- HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_016468.7:c.244C>T MANE Select NP_057552.1:p.Arg82Ter nonsense NM_001202547.2:c.499C>T NP_001189476.1:p.Arg167Ter nonsense NM_001202548.2:c.472C>T NP_001189477.1:p.Arg158Ter nonsense NM_001202549.2:c.400C>T NP_001189478.1:p.Arg134Ter nonsense NM_001204090.2:c.172C>T NP_001191019.1:p.Arg58Ter nonsense NC_000014.9:g.70326410G>A NC_000014.8:g.70793127G>A - Protein change
- R82*, R134*, R158*, R167*, R58*
- Other names
- -
- Canonical SPDI
- NC_000014.9:70326409:G:A
- Functional consequence
- -
- Global minor allele frequency (GMAF)
- -
- Allele frequency
- -
- Links
- OMIM: 618064.0001
- VarSome
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Aggregate interpretations per condition
| Interpreted condition | Interpretation | Number of submissions | Review status | Last evaluated | Variation/condition record |
|---|---|---|---|---|---|
| Pathogenic | 1 | no assertion criteria provided | Jun 4, 2022 | RCV001449913.2 |
Submitted interpretations and evidence
Help| Interpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | More information | |
|---|---|---|---|---|---|
|
Pathogenic
(Jun 04, 2022)
|
no assertion criteria provided
Method: literature only
|
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV001653309.2
First in ClinVar: Jun 02, 2021 Last updated: Jun 10, 2022 |
Comment on evidence:
In 2 unrelated patients with mitochondrial complex IV deficiency nuclear type 22 (MC4DN22; 619355), Wintjes et al. (2021) identified homozygosity for a c.244C-T transition (c.244C-T, … (more)
In 2 unrelated patients with mitochondrial complex IV deficiency nuclear type 22 (MC4DN22; 619355), Wintjes et al. (2021) identified homozygosity for a c.244C-T transition (c.244C-T, NM_016468.6) in exon 4 of the COX16 gene, resulting in an arg82-to-ter (R82X) substitution. The mutation, which was identified by whole-exome sequencing, was present in heterozygous state in both sets of parents. The variant was present at an allele frequency of 0.0034% in the gnomAD database in only heterozygous state. Analysis in fibroblasts from patient 1 and muscle tissue from patient 2 showed undetectable levels of COX16 protein and absence of fully assembled complex IV of the respiratory chain, with normal expression of the other respiratory chain complexes. Transduction of fibroblasts from patient 1 with wildtype COX16 cDNA resulted in increased complex IV assembly and rescue of complex IV activity. (less)
|
Functional evidence
Help| There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction. | Wintjes LTM | Human mutation | 2021 | PMID: 33169484 |
Record last updated Apr 15, 2023