rs118203884
Positions:
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP5
The ENST00000387377.1(MT-TM):n.8T>C 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-TM
ENST00000387377.1 non_coding_transcript_exon
ENST00000387377.1 non_coding_transcript_exon
Scores
Mitotip
Uncertain
Clinical Significance
Mitochondrial-myopathy
Conservation
PhyloP100: 7.56
Genes affected
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-4409-T-C is Pathogenic according to our data. Variant chrM-4409-T-C is described in ClinVar as [Pathogenic]. Clinvar id is 9578.Status of the report is no_assertion_criteria_provided, 0 stars.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TRNM | TRNM.1 use as main transcript | n.8T>C | non_coding_transcript_exon_variant | 1/1 | |||
TRNQ | TRNQ.1 use as main transcript | upstream_gene_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MT-TM | ENST00000387377.1 | n.8T>C | non_coding_transcript_exon_variant | 1/1 | |||||
MT-TQ | ENST00000387372.1 | upstream_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
Mitochondrial-myopathy
ClinVar
Significance: Pathogenic
Submissions summary: Pathogenic:1
Revision: no assertion criteria provided
LINK: link
Submissions by phenotype
Inborn mitochondrial myopathy Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Dec 05, 2008 | - - |
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
Mitotip
Uncertain
Hmtvar
Pathogenic
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at