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

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Sep 13, 2019)
Accession:
VCV000156229.4
Variation ID:
156229
Description:
single nucleotide variant
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NM_001134665.3(TRMT10A):c.379C>T (p.Arg127Ter)

Allele ID
166022
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4q23
Genomic location
4: 99557386 (GRCh38) GRCh38 UCSC
4: 100478543 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.100478543G>A
NC_000004.12:g.99557386G>A
NM_001134665.3:c.379C>T MANE Select NP_001128137.1:p.Arg127Ter nonsense
... more HGVS
Protein change
R127*
Other names
-
Canonical SPDI
NC_000004.12:99557385:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA170797
OMIM: 616013.0001
dbSNP: rs587777743
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 2 criteria provided, single submitter - RCV000144247.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TRMT10A - - GRCh38
GRCh37
16 33

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(-)
criteria provided, single submitter
Method: clinical testing
Microcephaly, short stature, and impaired glucose metabolism 1
Allele origin: inherited
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire,Universite Libre de Bruxelles
Accession: SCV000998512.1
Submitted: (Sep 13, 2019)
Evidence details
Publications
PubMed (1)
Pathogenic
(Oct 01, 2013)
no assertion criteria provided
Method: literature only
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM
Allele origin: germline
OMIM
Accession: SCV000189379.2
Submitted: (Sep 26, 2014)
Evidence details
Publications
PubMed (1)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
tRNA methyltransferase homolog gene TRMT10A mutation in young onset diabetes and primary microcephaly in humans. Igoillo-Esteve M PLoS genetics 2013 PMID: 24204302

Text-mined citations for rs587777743...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Apr 08, 2021