NM_001136035.4(TRMT1):c.1534C>T (p.Arg512Ter) AND Intellectual developmental disorder, autosomal recessive 68

Germline classification:: Likely pathogenic (1 submission)
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:: RCV001293634.1

Allele description [Variation Report for NM_001136035.4(TRMT1):c.1534C>T (p.Arg512Ter)]

NM_001136035.4(TRMT1):c.1534C>T (p.Arg512Ter)

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.1534C>T (p.Arg512Ter)

HGVS:

NC_000019.10:g.13107623G>A
NG_027756.1:g.538C>T
NG_027756.2:g.538C>T
NG_054900.1:g.14945C>T
NM_001136035.4:c.1534C>TMANE SELECT
NM_001142554.3:c.1447C>T
NM_001351760.2:c.1447C>T
NM_001351761.2:c.1426C>T
NM_001351762.2:c.751C>T
NM_017722.5:c.1534C>T
NP_001129507.1:p.Arg512Ter
NP_001136026.1:p.Arg483Ter
NP_001338689.1:p.Arg483Ter
NP_001338690.1:p.Arg476Ter
NP_001338691.1:p.Arg251Ter
NP_060192.1:p.Arg512Ter
NC_000019.9:g.13218437G>A
NM_001136035.3:c.1534C>T
p.(Arg512Ter)

Protein change:

R251*

Links:

dbSNP: rs751298016

NCBI 1000 Genomes Browser:

rs751298016

Molecular consequence:

NM_001136035.4:c.1534C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001142554.3:c.1447C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001351760.2:c.1447C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001351761.2:c.1426C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001351762.2:c.751C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_017722.5:c.1534C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Name:: Intellectual developmental disorder, autosomal recessive 68
Synonyms:: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 68
Identifiers:: MONDO: MONDO:0032665; MedGen: C4749033; OMIM: 618302

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001482025	Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001482025

Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

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 Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, SCV001482025.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		1	not provided	not provided	clinical testing	PubMed (1)

Description

ACMG classification: PVS1, PM2

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Apr 23, 2022

ClinVar

Relating variation to medicine