M-4365-C-CA
Position:
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP5
The ENST00000387372.1(MT-TQ):n.35_36insT variant causes a non coding transcript exon change involving the alteration of a conserved nucleotide. Variant has been reported in ClinVar as Pathogenic (no stars).
Frequency
Mitomap GenBank:
Absent
Consequence
MT-TQ
ENST00000387372.1 non_coding_transcript_exon
ENST00000387372.1 non_coding_transcript_exon
Scores
Clinical Significance
Myopathy
Conservation
PhyloP100: 8.87
Genes affected
MT-TQ (HGNC:7495): (mitochondrially encoded tRNA glutamine)
MT-TM (HGNC:7492): (mitochondrially encoded tRNA methionine)
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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-4365-C-CA is Pathogenic according to our data. Variant chrM-4365-C-CA is described in ClinVar as [Pathogenic]. Clinvar id is 9614.Status of the report is no_assertion_criteria_provided, 0 stars.
Transcripts
RefSeq
| Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|
| TRNQ | TRNQ.1 use as main transcript | n.35_36insT | non_coding_transcript_exon_variant | 1/1 | ||||
| TRNM | TRNM.1 use as main transcript | upstream_gene_variant | ||||||
| TRNI | TRNI.1 use as main transcript | downstream_gene_variant |
Ensembl
| Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
|---|---|---|---|---|---|---|---|---|---|---|
| MT-TQ | ENST00000387372.1 | n.35_36insT | non_coding_transcript_exon_variant | 1/1 | ||||||
| MT-TM | ENST00000387377.1 | upstream_gene_variant | ||||||||
| MT-TI | ENST00000387365.1 | downstream_gene_variant |
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
Myopathy
ClinVar
Significance: Pathogenic
Submissions summary: Pathogenic:1
Revision: no assertion criteria provided
LINK: link
Submissions by phenotype
Myopathy Pathogenic:1
| Pathogenic, no assertion criteria provided | literature only | OMIM | Oct 01, 2000 | - - |
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at