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NM_020810.3(TRMT5):c.616A>G (p.Ile206Val) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 14, 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:
RCV004068580.1

Allele description [Variation Report for NM_020810.3(TRMT5):c.616A>G (p.Ile206Val)]

NM_020810.3(TRMT5):c.616A>G (p.Ile206Val)

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.616A>G (p.Ile206Val)
HGVS:
  • NC_000014.9:g.60979282T>C
  • NG_053119.1:g.7409A>G
  • NM_001350253.1:c.700A>G
  • NM_001350254.1:c.697A>G
  • NM_020810.2:c.616A>G
  • NM_020810.3:c.616A>GMANE SELECT
  • NP_001337182.1:p.Ile234Val
  • NP_001337183.1:p.Ile233Val
  • NP_065861.3:p.Ile206Val
  • NC_000014.8:g.61446000T>C
Protein change:
I206V
Molecular consequence:
  • NM_001350253.1:c.700A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350254.1:c.697A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020810.3:c.616A>G - 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
SCV004972228Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 14, 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, SCV004972228.1

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

Description

The c.616A>G (p.I206V) alteration is located in exon 2 (coding exon 2) of the TRMT5 gene. This alteration results from a A to G substitution at nucleotide position 616, causing the isoleucine (I) at amino acid position 206 to be replaced by a valine (V). 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: Sep 29, 2024