NM_001134665.3(TRMT10A):c.379C>T (p.Arg127Ter) AND Microcephaly, short stature, and impaired glucose metabolism 1

Clinical significance:Likely pathogenic

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000144247.4

Allele description [Variation Report for NM_001134665.3(TRMT10A):c.379C>T (p.Arg127Ter)]

NM_001134665.3(TRMT10A):c.379C>T (p.Arg127Ter)

Gene:
TRMT10A:tRNA methyltransferase 10A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q23
Genomic location:
Preferred name:
NM_001134665.3(TRMT10A):c.379C>T (p.Arg127Ter)
HGVS:
  • NC_000004.12:g.99557386G>A
  • NG_041774.1:g.11672C>T
  • NM_001134665.3:c.379C>TMANE SELECT
  • NM_001134666.3:c.379C>T
  • NM_152292.5:c.379C>T
  • NP_001128137.1:p.Arg127Ter
  • NP_001128138.1:p.Arg127Ter
  • NP_689505.1:p.Arg127Ter
  • NC_000004.11:g.100478543G>A
  • NM_152292.4:c.379C>T
Protein change:
R127*; ARG127TER
Links:
OMIM: 616013.0001; dbSNP: rs587777743
NCBI 1000 Genomes Browser:
rs587777743
Molecular consequence:
  • NM_001134665.3:c.379C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001134666.3:c.379C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_152292.5:c.379C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Microcephaly, short stature, and impaired glucose metabolism 1 (MSSGM1)
Identifiers:
MONDO: MONDO:0000208; MedGen: C4014997; Orphanet: 391408; OMIM: 616033

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000189379OMIMno assertion criteria providedPathogenic
(Oct 1, 2013)
germlineliterature only

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

SCV000998512Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire,Universite Libre de Bruxellescriteria provided, single submitter
Likely pathogenicinheritedclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

tRNA methyltransferase homolog gene TRMT10A mutation in young onset diabetes and primary microcephaly in humans.

Igoillo-Esteve M, Genin A, Lambert N, D├ęsir J, Pirson I, Abdulkarim B, Simonis N, Drielsma A, Marselli L, Marchetti P, Vanderhaeghen P, Eizirik DL, Wuyts W, Julier C, Chakera AJ, Ellard S, Hattersley AT, Abramowicz M, Cnop M.

PLoS Genet. 2013 Oct;9(10):e1003888. doi: 10.1371/journal.pgen.1003888. Epub 2013 Oct 31.

PubMed [citation]
PMID:
24204302
PMCID:
PMC3814312

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From OMIM, SCV000189379.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In 3 sibs from a consanguineous family of Moroccan descent who had microcephaly, short stature, and early-onset diabetes (MSSGM; 616033), Igoillo-Esteve et al. (2013) identified homozygosity for a c.379G-A transition in exon 4 of the TRMT10A gene, resulting in an arg127-to-ter (R127X) substitution at a highly conserved residue. The mutation, which segregated with disease in the family, was not found in 51 in-house control exomes or in the dbSNP (build 135), 1000 Genomes Project, or Exome Variant Server databases. Analysis of patient lymphoblasts by Western blot and real-time PCR showed absence of TRMT10A protein and markedly reduced expression of TRMT10A mRNA; intermediate expression was observed in a heterozygous carrier.

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

From Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire,Universite Libre de Bruxelles, SCV000998512.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 12, 2021

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