chrM-9273-T-TATC
Position:
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PM4_SupportingPP5
The ENST00000362079.2(MT-CO3):c.67_68insATC(p.Ser23delinsTyrPro) variant causes a protein altering change. Variant has been reported in ClinVar as Pathogenic (no stars).
Frequency
Mitomap GenBank:
Absent
Consequence
MT-CO3
ENST00000362079.2 protein_altering
ENST00000362079.2 protein_altering
Scores
Clinical Significance
No linked disesase in Mitomap
Conservation
PhyloP100: 4.76
Genes affected
MT-CO3 (HGNC:7422): (mitochondrially encoded cytochrome c oxidase III) Predicted to enable electron transfer activity and oxidoreduction-driven active transmembrane transporter activity. Involved in respiratory chain complex IV assembly. Part of respiratory chain complex IV. Implicated in MELAS syndrome. [provided by Alliance of Genome Resources, Apr 2022]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 4 ACMG points.
PM2
No frequency data in Mitomap. Probably very rare.
PM4
Nonframeshift variant in NON repetitive region in ENST00000362079.2. Strenght limited to Supporting due to length of the change: 1aa.
PP5
Variant M-9273-T-TATC is Pathogenic according to our data. Variant chrM-9273-T-TATC is described in ClinVar as [Pathogenic]. Clinvar id is 599028.Status of the report is no_assertion_criteria_provided, 0 stars.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
COX3 | COX3.1 use as main transcript | c.67_68insATC | p.Ser23delinsTyrPro | protein_altering_variant | 1/1 | YP_003024032.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MT-CO3 | ENST00000362079.2 | c.67_68insATC | p.Ser23delinsTyrPro | protein_altering_variant | 1/1 | ENSP00000354982 | 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: Pathogenic
Submissions summary: Pathogenic:1
Revision: no assertion criteria provided
LINK: link
Submissions by phenotype
Tetralogy of Fallot Pathogenic:1
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