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

Scores

Mitotip
Uncertain
13

Clinical Significance

Pathogenic no assertion criteria provided P:1
Mitochondrial-myopathy

Conservation

PhyloP100: 7.18
Variant links:
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
TRNDunassigned_transcript_4802 use as main transcriptc.9A>G p.Leu3Leu synonymous_variant 1/1
TRNS1unassigned_transcript_4801 use as main transcriptc.-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
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 providedliterature onlyOMIMAug 30, 2005- -

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
Mitotip
Uncertain
13
Hmtvar
Pathogenic
0.60

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs121434454; hg19: chrM-7527; API