NM_020810.3(TRMT5):c.198T>G (p.His66Gln) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 29, 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:: RCV002814150.2

Allele description [Variation Report for NM_020810.3(TRMT5):c.198T>G (p.His66Gln)]

NM_020810.3(TRMT5):c.198T>G (p.His66Gln)

Gene:

TRMT5:tRNA methyltransferase 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q23.1

Genomic location:

Preferred name:

NM_020810.3(TRMT5):c.198T>G (p.His66Gln)

HGVS:

NC_000014.9:g.60979700A>C
NG_053119.1:g.6991T>G
NM_001350253.1:c.282T>G
NM_001350254.1:c.279T>G
NM_020810.3:c.198T>GMANE SELECT
NP_001337182.1:p.His94Gln
NP_001337183.1:p.His93Gln
NP_065861.3:p.His66Gln
NC_000014.8:g.61446418A>C
NM_020810.2:c.198T>G

Protein change:

H66Q

Molecular consequence:

NM_001350253.1:c.282T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001350254.1:c.279T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_020810.3:c.198T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

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ribosomal protein S15 (chloroplast) [Gymnocladus chinensis]
ribosomal protein S15 (chloroplast) [Gymnocladus chinensis]
gi|2515410000|gb|WIL99095.1|

Protein
PREDICTED: Homo sapiens angiotensin I converting enzyme (ACE), transcript varian...
PREDICTED: Homo sapiens angiotensin I converting enzyme (ACE), transcript variant X1, mRNA
gi|2462553591|ref|XM_054315297.1|

Nucleotide
large ribosomal subunit protein uL24m isoform X1 [Homo sapiens]
large ribosomal subunit protein uL24m isoform X1 [Homo sapiens]
gi|767910427|ref|XP_011508283.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003606047	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Mar 29, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003606047

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Mar 29, 2022)

germline

clinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003606047.2

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

Description

The c.198T>G (p.H66Q) alteration is located in exon 2 (coding exon 2) of the TRMT5 gene. This alteration results from a T to G substitution at nucleotide position 198, causing the histidine (H) at amino acid position 66 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024

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