rs797044543

Positions:

chrM-4279-A-G

Variant summary

Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2

No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Mitomap GenBank:

Absent

Consequence

TRNI
missense

Scores

Mitotip

Uncertain

Clinical Significance

Not reported in ClinVar

Myoclonic-epilepsy

Conservation

PhyloP100: 1.33

Variant links:

Genes affected

TRNI (HGNC:):

TRNI links:

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ACMG classification

Classification made for transcript

Verdict is Uncertain_significance. Variant got 2 ACMG points.

PM2

No frequency data in Mitomap. Probably very rare.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons
TRNI	unassigned_transcript_4791 use as main transcript	c.17A>G	p.Lys6Arg	missense_variant	1/1
ND1	unassigned_transcript_4790 use as main transcript	c.*17A>G		downstream_gene_variant
TRNQ	unassigned_transcript_4792 use as main transcript	c.*50T>C		downstream_gene_variant
	use as main transcript

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD4 exome

Cov.:

We have no GnomAD4 genomes data on this position. Probably position not covered by the project.

Mitomap

Myoclonic-epilepsy

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

Mitotip

Uncertain

Hmtvar

Pathogenic

0.55

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.