NM_018006.5(TRMU):c.954dup (p.Ala319fs) AND Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 8, 2017
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000578236.6

Allele description [Variation Report for NM_018006.5(TRMU):c.954dup (p.Ala319fs)]

NM_018006.5(TRMU):c.954dup (p.Ala319fs)

Gene:

TRMU:tRNA mitochondrial 2-thiouridylase [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

22q13.31

Genomic location:

Preferred name:

NM_018006.5(TRMU):c.954dup (p.Ala319fs)

HGVS:

NC_000022.11:g.46355524dup
NG_012173.1:g.25124dup
NM_001282782.2:c.612dup
NM_001282783.2:c.534dup
NM_001282784.2:c.534dup
NM_001282785.2:c.954dup
NM_018006.5:c.954dupMANE SELECT
NP_001269711.1:p.Ala205fs
NP_001269712.1:p.Ala179fs
NP_001269713.1:p.Ala179fs
NP_001269714.1:p.Ala319fs
NP_060476.2:p.Ala319fs
NC_000022.10:g.46751418_46751419insC
NC_000022.10:g.46751421dup
NM_018006.4:c.954dupC
NR_104240.2:n.950dup
NR_104241.2:n.843dup
p.A319RfsX87

Protein change:

A179fs

Links:

dbSNP: rs863224242

NCBI 1000 Genomes Browser:

rs863224242

Molecular consequence:

NM_001282782.2:c.612dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001282783.2:c.534dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001282784.2:c.534dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001282785.2:c.954dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_018006.5:c.954dup - frameshift variant - [Sequence Ontology: SO:0001589]
NR_104240.2:n.950dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104241.2:n.843dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Name:: Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
Synonyms:: Liver failure acute infantile; LIVER FAILURE, INFANTILE, TRANSIENT
Identifiers:: MONDO: MONDO:0013111; MedGen: C3278664; Orphanet: 217371; OMIM: 613070

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000680417	Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	criteria provided, single submitter (Classification criteria August 2017)	Pathogenic (Nov 8, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000680417

Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

criteria provided, single submitter

(Classification criteria August 2017)

Pathogenic
(Nov 8, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München, SCV000680417.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	1	blood	not provided		1	not provided	not provided	not provided

Last Updated: Apr 13, 2025

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