NM_001136035.4(TRMT1):c.1529G>A (p.Arg510Gln) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 12, 2023
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:
RCV003360236.2

Allele description [Variation Report for NM_001136035.4(TRMT1):c.1529G>A (p.Arg510Gln)]

NM_001136035.4(TRMT1):c.1529G>A (p.Arg510Gln)

Gene:
TRMT1:tRNA methyltransferase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.13
Genomic location:
Preferred name:
NM_001136035.4(TRMT1):c.1529G>A (p.Arg510Gln)
HGVS:
  • NC_000019.10:g.13107628C>T
  • NG_027756.2:g.533G>A
  • NG_054900.1:g.14940G>A
  • NM_001136035.4:c.1529G>AMANE SELECT
  • NM_001142554.3:c.1442G>A
  • NM_001351760.2:c.1442G>A
  • NM_001351761.2:c.1421G>A
  • NM_001351762.2:c.746G>A
  • NM_017722.5:c.1529G>A
  • NP_001129507.1:p.Arg510Gln
  • NP_001136026.1:p.Arg481Gln
  • NP_001338689.1:p.Arg481Gln
  • NP_001338690.1:p.Arg474Gln
  • NP_001338691.1:p.Arg249Gln
  • NP_060192.1:p.Arg510Gln
  • NC_000019.9:g.13218442C>T
  • NM_017722.3:c.1529G>A
Protein change:
R249Q
Molecular consequence:
  • NM_001136035.4:c.1529G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142554.3:c.1442G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351760.2:c.1442G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351761.2:c.1421G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351762.2:c.746G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_017722.5:c.1529G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004081493Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 12, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV004081493.2

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

Description

The c.1529G>A (p.R510Q) alteration is located in exon 13 (coding exon 13) of the TRMT1 gene. This alteration results from a G to A substitution at nucleotide position 1529, causing the arginine (R) at amino acid position 510 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024