chrM-7661-C-CCCA
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP5
The ENST00000361739.1(MT-CO2):c.76_77insCCA(p.His26delinsProAsn) variant causes a protein altering change involving the alteration of a conserved nucleotide. Variant has been reported in ClinVar as Likely pathogenic (no stars).
Frequency
Mitomap GenBank:
Absent
Consequence
MT-CO2
ENST00000361739.1 protein_altering
ENST00000361739.1 protein_altering
Scores
Clinical Significance
No linked disesase in Mitomap
Conservation
PhyloP100: 8.98
Genes affected
MT-CO2 (HGNC:7421): (mitochondrially encoded cytochrome c oxidase II) Contributes to cytochrome-c oxidase activity. Predicted to be involved in mitochondrial electron transport, cytochrome c to oxygen and positive regulation of vasoconstriction. Located in mitochondrial inner membrane. Part of respiratory chain complex IV. Biomarker of Huntington's disease and stomach cancer. [provided by Alliance of Genome Resources, Apr 2022]
Genome browser will be placed here
ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 3 ACMG points.
PM2
?
No frequency data in Mitomap. Probably very rare.
PP5
?
Variant M-7661-C-CCCA is Pathogenic according to our data. Variant chrM-7661-C-CCCA is described in ClinVar as [Likely_pathogenic]. Clinvar id is 590892.Status of the report is no_assertion_criteria_provided, 0 stars.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
COX2 | COX2.1 use as main transcript | c.76_77insCCA | p.His26delinsProAsn | protein_altering_variant | 1/1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MT-CO2 | ENST00000361739.1 | c.76_77insCCA | p.His26delinsProAsn | protein_altering_variant | 1/1 | P1 |
Frequencies
GnomAD4 exome Cov.: 0
GnomAD4 exome
Cov.:
0
We have no GnomAD4 genomes data on this position. Probably position not covered by the project.
Mitomap
No disease associated.
ClinVar
Significance: Likely pathogenic
Submissions summary: Pathogenic:1
Revision: no assertion criteria provided
LINK: link
Submissions by phenotype
Abnormal aortic valve physiology Pathogenic:1
Likely pathogenic, no assertion criteria provided | case-control | Molecular Biology Laboratory, University of Basrah | - | - - |
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at