U.S. flag

An official website of the United States government

NM_018006.5(TRMU):c.680G>C (p.Arg227Thr) AND Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 1, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001250083.2

Allele description [Variation Report for NM_018006.5(TRMU):c.680G>C (p.Arg227Thr)]

NM_018006.5(TRMU):c.680G>C (p.Arg227Thr)

Gene:
TRMU:tRNA mitochondrial 2-thiouridylase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q13.31
Genomic location:
Preferred name:
NM_018006.5(TRMU):c.680G>C (p.Arg227Thr)
HGVS:
  • NC_000022.11:g.46352149G>C
  • NG_012173.1:g.21749G>C
  • NM_001282782.2:c.338G>C
  • NM_001282783.2:c.260G>C
  • NM_001282784.2:c.260G>C
  • NM_001282785.2:c.680G>C
  • NM_018006.5:c.680G>CMANE SELECT
  • NP_001269711.1:p.Arg113Thr
  • NP_001269712.1:p.Arg87Thr
  • NP_001269713.1:p.Arg87Thr
  • NP_001269714.1:p.Arg227Thr
  • NP_060476.2:p.Arg227Thr
  • NC_000022.10:g.46748046G>C
  • NC_000022.10:g.46748046G>C
  • NM_018006.3:c.680G>C
  • NM_018006.4:c.680G>C
  • NR_104240.2:n.676G>C
  • NR_104241.2:n.569G>C
Protein change:
R113T
Links:
dbSNP: rs764622793
NCBI 1000 Genomes Browser:
rs764622793
Molecular consequence:
  • NM_001282782.2:c.338G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282783.2:c.260G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282784.2:c.260G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282785.2:c.680G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_018006.5:c.680G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_104240.2:n.676G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_104241.2:n.569G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001424255Elsea Laboratory, Baylor College of Medicine
no assertion criteria provided
Likely pathogenic
(Apr 1, 2020) 		maternalclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Elsea Laboratory, Baylor College of Medicine, SCV001424255.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024