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NM_001136035.4(TRMT1):c.1042T>C (p.Cys348Arg) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 21, 2022
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:
RCV003109919.3

Allele description [Variation Report for NM_001136035.4(TRMT1):c.1042T>C (p.Cys348Arg)]

NM_001136035.4(TRMT1):c.1042T>C (p.Cys348Arg)

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.1042T>C (p.Cys348Arg)
HGVS:
  • NC_000019.10:g.13109979A>G
  • NG_054900.1:g.12589T>C
  • NG_140487.1:g.429A>G
  • NM_001136035.4:c.1042T>CMANE SELECT
  • NM_001142554.3:c.1020-141T>C
  • NM_001351760.2:c.1020-141T>C
  • NM_001351761.2:c.934T>C
  • NM_001351762.2:c.259T>C
  • NM_017722.5:c.1042T>C
  • NP_001129507.1:p.Cys348Arg
  • NP_001338690.1:p.Cys312Arg
  • NP_001338691.1:p.Cys87Arg
  • NP_060192.1:p.Cys348Arg
  • NC_000019.9:g.13220793A>G
  • NM_017722.3:c.1042T>C
Protein change:
C312R
Molecular consequence:
  • NM_001142554.3:c.1020-141T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351760.2:c.1020-141T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001136035.4:c.1042T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351761.2:c.934T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351762.2:c.259T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_017722.5:c.1042T>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV003761690GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely pathogenic
(Jul 21, 2022) 		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, SCV003761690.2

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

Description

Published in vitro functional studies demonstrate total elimination of methyltransferase activity compared to wildtype (Liu et al., 2000); 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: 10982862)

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

Last Updated: Nov 11, 2023