NM_001358921.2(COQ2):c.-23C>G AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 13, 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:: RCV002515384.2

Allele description [Variation Report for NM_001358921.2(COQ2):c.-23C>G]

NM_001358921.2(COQ2):c.-23C>G

Genes:

LOC112997540:Sharpr-MPRA regulatory region 13773 [Gene]
COQ2:coenzyme Q2, polyprenyltransferase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q21.23

Genomic location:

Preferred name:

NM_001358921.2(COQ2):c.-23C>G

Other names:

p.A43G:GCT>GGT

HGVS:

NC_000004.12:g.83284787G>C
NG_015825.1:g.5128C>G
NG_061533.1:g.252G>C
NM_001358921.2:c.-23C>GMANE SELECT
NM_015697.8:c.128C>G
NM_015697.9:c.128C>G
NP_056512.5:p.Ala43Gly
NC_000004.11:g.84205940G>C
NM_015697.7:c.128C>G

Protein change:

A43G

Links:

dbSNP: rs368891722

NCBI 1000 Genomes Browser:

rs368891722

Molecular consequence:

NM_001358921.2:c.-23C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_015697.9:c.128C>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV003730049	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jan 13, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003730049

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jan 13, 2022)

germline

clinical testing

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

Citation Link

Help

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

Citations

PubMed

Mutational analysis of COQ2 in patients with MSA in Italy.

Ronchi D, Di Biase E, Franco G, Melzi V, Del Sorbo F, Elia A, Barzaghi C, Garavaglia B, Bergamini C, Fato R, Mora G, Del Bo R, Fortunato F, Borellini L, Trezzi I, Compagnoni GM, Monfrini E, Frattini E, Bonato S, Cogiamanian F, Ardolino G, Priori A, et al.

Neurobiol Aging. 2016 Sep;45:213.e1-213.e2. doi: 10.1016/j.neurobiolaging.2016.05.022. Epub 2016 Jun 7.

PubMed [citation]

PMID:: 27394078

Details of each submission

From Ambry Genetics, SCV003730049.2

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

Description

The c.128C>G (p.A43G) alteration is located in exon 1 (coding exon 1) of the COQ2 gene. This alteration results from a C to G substitution at nucleotide position 128, causing the alanine (A) at amino acid position 43 to be replaced by a glycine (G). 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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