rs118203894
Positions:
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 0P and 11B. BP4BP6_ModerateBS1BS2
The ENST00000387409.1(MT-TY):n.49T>C variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. Variant has been reported in ClinVar as Benign (★).
Frequency
Mitomap GenBank:
𝑓 0.0074 ( AC: 452 )
Consequence
MT-TY
ENST00000387409.1 non_coding_transcript_exon
ENST00000387409.1 non_coding_transcript_exon
Scores
Mitotip
Benign
Clinical Significance
FSGS-/-Mitochondrial-Cytopathy
Conservation
PhyloP100: 0.876
Genes affected
MT-TY (HGNC:7502): (mitochondrially encoded tRNA tyrosine)
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -11 ACMG points.
BP4
?
Mitotip and hmtvar scores support benign criterium.
BP6
?
Variant M-5843-A-G is Benign according to our data. Variant chrM-5843-A-G is described in ClinVar as [Benign]. Clinvar id is 9553.Status of the report is criteria_provided_single_submitter, 1 stars.
BS1
?
High frequency in mitomap database: 0.0074
BS2
?
High AC in GnomadMitoHomoplasmic at 43
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TRNY | TRNY.1 use as main transcript | n.49T>C | non_coding_transcript_exon_variant | 1/1 | |||
TRNC | TRNC.1 use as main transcript | upstream_gene_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MT-TY | ENST00000387409.1 | n.49T>C | non_coding_transcript_exon_variant | 1/1 | |||||
MT-TC | ENST00000387405.1 | upstream_gene_variant |
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:
452
Gnomad homoplasmic
AF:
AC:
43
AN:
56422
Gnomad heteroplasmic
AF:
AC:
3
AN:
56422
Mitomap
FSGS-/-Mitochondrial-Cytopathy
ClinVar
Significance: Benign
Submissions summary: Pathogenic:1Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
Focal segmental glomerulosclerosis and dilated cardiomyopathy Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Dec 01, 2003 | - - |
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke Benign:1
Benign, 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.5843A>G variant in MT-TY gene is interpreted to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes reported in the guidelines: BS1, BS2, BP4 - |
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
Mitotip
Benign
Hmtvar
Benign
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at