NM_020745.4(AARS2):c.2417G>A (p.Arg806Gln) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 20, 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:: RCV004041351.1

Allele description [Variation Report for NM_020745.4(AARS2):c.2417G>A (p.Arg806Gln)]

NM_020745.4(AARS2):c.2417G>A (p.Arg806Gln)

Gene:

AARS2:alanyl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.1

Genomic location:

Preferred name:

NM_020745.4(AARS2):c.2417G>A (p.Arg806Gln)

HGVS:

NC_000006.12:g.44302461C>T
NG_028283.4:g.790374C>T
NG_031952.2:g.15886G>A
NM_020745.4:c.2417G>AMANE SELECT
NP_065796.2:p.Arg806Gln
NC_000006.11:g.44270198C>T
NG_031952.1:g.15866G>A
NM_020745.2:c.2417G>A

Protein change:

R806Q

Links:

dbSNP: rs148172134

NCBI 1000 Genomes Browser:

rs148172134

Molecular consequence:

NM_020745.4:c.2417G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

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Component Of for Nucleotide (Select 13727938) (2)
Nucleotide
GPR35 G protein-coupled receptor 35 [Homo sapiens]
GPR35 G protein-coupled receptor 35 [Homo sapiens]
Gene ID:2859

Gene
Gene Links for GEO Profiles (Select 69619765) (1)
Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004919959	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 20, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004919959

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 20, 2023)

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, SCV004919959.1

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

Description

The c.2417G>A (p.R806Q) alteration is located in exon 18 (coding exon 18) of the AARS2 gene. This alteration results from a G to A substitution at nucleotide position 2417, causing the arginine (R) at amino acid position 806 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: Sep 29, 2024

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