rs121434454
Positions:
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP5
Variant has been reported in ClinVar as Pathogenic (no stars).
Frequency
Mitomap GenBank:
Absent
Consequence
TRND
synonymous
synonymous
Scores
Mitotip
Uncertain
Clinical Significance
Mitochondrial-myopathy
Conservation
PhyloP100: 7.18
Genes affected
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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-7526-A-G is Pathogenic according to our data. Variant chrM-7526-A-G is described in ClinVar as [Pathogenic]. Clinvar id is 9619.Status of the report is no_assertion_criteria_provided, 0 stars.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TRND | unassigned_transcript_4802 use as main transcript | c.9A>G | p.Leu3Leu | synonymous_variant | 1/1 | |||
TRNS1 | unassigned_transcript_4801 use as main transcript | c.-12T>C | upstream_gene_variant | |||||
use as main transcript |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|
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
Mitochondrial myopathy, isolated Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Aug 30, 2005 | - - |
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
Mitotip
Uncertain
Hmtvar
Pathogenic
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at