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NM_018006.5(TRMU):c.40G>A (p.Gly14Ser) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 5, 2020
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:
RCV001756140.2

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)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001986008GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Oct 5, 2020) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001986008.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Identified as heterozygous in an individual with infantile liver failure, hepatomegaly, current age 5 of years; A second variant was not described (Boczonadi et al., 2015); Analysis in patient cells harboring G14S showed reduced mitochondrial enzymatic activities of Complex I and IV and the 2-thiouridylation levels of the mitochondrial tRNAs were markedly reduced (Zeharia et al., 2009); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 19732863, 25407320, 21910628)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024