NM_018006.5(TRMU):c.671T>G (p.Ile224Ser) AND Inborn genetic diseases

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Sep 21, 2015
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:: RCV000622398.2

Allele description [Variation Report for NM_018006.5(TRMU):c.671T>G (p.Ile224Ser)]

NM_018006.5(TRMU):c.671T>G (p.Ile224Ser)

Gene:

TRMU:tRNA mitochondrial 2-thiouridylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q13.31

Genomic location:

Preferred name:

NM_018006.5(TRMU):c.671T>G (p.Ile224Ser)

HGVS:

NC_000022.11:g.46352140T>G
NG_012173.1:g.21740T>G
NM_001282782.2:c.329T>G
NM_001282783.2:c.251T>G
NM_001282784.2:c.251T>G
NM_001282785.2:c.671T>G
NM_018006.5:c.671T>GMANE SELECT
NP_001269711.1:p.Ile110Ser
NP_001269712.1:p.Ile84Ser
NP_001269713.1:p.Ile84Ser
NP_001269714.1:p.Ile224Ser
NP_060476.2:p.Ile224Ser
NC_000022.10:g.46748037T>G
NM_018006.4:c.671T>G
NR_104240.2:n.667T>G
NR_104241.2:n.560T>G

Protein change:

I110S

Links:

dbSNP: rs926748713

NCBI 1000 Genomes Browser:

rs926748713

Molecular consequence:

NM_001282782.2:c.329T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001282783.2:c.251T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001282784.2:c.251T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001282785.2:c.671T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_018006.5:c.671T>G - missense variant - [Sequence Ontology: SO:0001583]
NR_104240.2:n.667T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104241.2:n.560T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000741011	Ambry Genetics	criteria provided, single submitter (Ambry exome assertion method (8-5-2015))	Likely pathogenic (Sep 21, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000741011

Ambry Genetics

criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))

Likely pathogenic
(Sep 21, 2015)

germline

clinical testing

Citation Link

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	1	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV000741011.3

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

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

Last Updated: Jan 7, 2023

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