rs199476140

Positions:

• chrM-4365-C-CA

Variant summary

Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2 PP5

Variant has been reported in ClinVar as Pathogenic (no stars).

• Frequency: Mitomap GenBank: Absent
• Consequence: TRNQ frameshift
• Clinical Significance: Pathogenic no assertion criteria provided P:1 Myopathy
• Conservation: PhyloP100: 8.87

Genes affected

TRNQ (HGNC:):

ACMG classification

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	unassigned_transcript_4792	c.35dupT	p.Leu12fs	frameshift_variant	1/1
TRNM	unassigned_transcript_4793	c.-37_-36insA		upstream_gene_variant
TRNI	unassigned_transcript_4791	c.*34_*35insA		downstream_gene_variant

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

Myopathy

ClinVar

Significance: Pathogenic

Submissions summary: Pathogenic:1

Revision: no assertion criteria provided

Submissions by phenotype

Myopathy Pathogenic:1

Pathogenic, no assertion criteria provided

literature only

OMIM

Oct 01, 2000

- -

Computational scores

Source: dbNSFP v4.3

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs199476140; hg19: chrM-4366;