rs121434469
Positions:
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Mitomap GenBank:
𝑓 0.0 ( AC: 0 )
Consequence
TRNI
synonymous
synonymous
Scores
Mitotip
Uncertain
Clinical Significance
Progressive-Encephalopathy-/-PEO+myopathy
Conservation
PhyloP100: 3.97
Genes affected
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 2 ACMG points.
PM2
Very low frequency in mitomap database: 0.0
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TRNI | unassigned_transcript_4791 use as main transcript | c.28T>C | p.Leu10Leu | synonymous_variant | 1/1 | |||
ND1 | unassigned_transcript_4790 use as main transcript | c.*28T>C | downstream_gene_variant | |||||
TRNQ | unassigned_transcript_4792 use as main transcript | c.*39A>G | downstream_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 GenBank
AF:
AC:
0
Gnomad homoplasmic
AF:
AC:
0
AN:
56425
Gnomad heteroplasmic
AF:
AC:
1
AN:
56425
Mitomap
Progressive-Encephalopathy-/-PEO+myopathy
ClinVar
Significance: Uncertain significance
Submissions summary: Pathogenic:1Uncertain:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
Encephalopathy, familial progressive necrotizing Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | May 01, 2004 | - - |
MELAS syndrome Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine | Jul 12, 2019 | The NC_012920.1:m.4290T>C variant in MT-TI gene is interpreted to be a Unknown Significance variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes reported in the guidelines: PP3, BS4 - |
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
Mitotip
Uncertain
Hmtvar
Pathogenic
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at