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NM_018006.5(TRMU):c.40G>A (p.Gly14Ser) AND Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 7, 2018
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:
RCV000673121.1

Allele description [Variation Report for NM_018006.5(TRMU):c.40G>A (p.Gly14Ser)]

NM_018006.5(TRMU):c.40G>A (p.Gly14Ser)

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.40G>A (p.Gly14Ser)
HGVS:
  • NC_000022.11:g.46335804G>A
  • NG_012173.1:g.5404G>A
  • NM_001282782.2:c.-196G>A
  • NM_001282783.2:c.-215G>A
  • NM_001282784.2:c.-215G>A
  • NM_001282785.2:c.40G>A
  • NM_018006.5:c.40G>AMANE SELECT
  • NP_001269714.1:p.Gly14Ser
  • NP_060476.2:p.Gly14Ser
  • NC_000022.10:g.46731701G>A
  • NM_018006.4:c.40G>A
  • NR_104240.2:n.91G>A
  • NR_104241.2:n.91G>A
Protein change:
G14S
Links:
dbSNP: rs751248771
NCBI 1000 Genomes Browser:
rs751248771
Molecular consequence:
  • NM_001282782.2:c.-196G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001282783.2:c.-215G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001282784.2:c.-215G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001282785.2:c.40G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_018006.5:c.40G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_104240.2:n.91G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_104241.2:n.91G>A - 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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000798289Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Uncertain significance
(Mar 7, 2018) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

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Summary from all submissions

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

Citations

PubMed

Acute infantile liver failure due to mutations in the TRMU gene.

Zeharia A, Shaag A, Pappo O, Mager-Heckel AM, Saada A, Beinat M, Karicheva O, Mandel H, Ofek N, Segel R, Marom D, Rötig A, Tarassov I, Elpeleg O.

Am J Hum Genet. 2009 Sep;85(3):401-7. doi: 10.1016/j.ajhg.2009.08.004. Erratum in: Am J Hum Genet. 2010 Feb;86(2):295.

PubMed [citation]
PMID:
19732863
PMCID:
PMC2771591

Details of each submission

From Counsyl, SCV000798289.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024