NM_001358921.2(COQ2):c.-23C>G AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 8, 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:: RCV001853172.3

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)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Stelis aloisii (57)
SRA
PREDICTED: Prunus persica dehydration-responsive element-binding protein 1A (LOC...
PREDICTED: Prunus persica dehydration-responsive element-binding protein 1A (LOC18778067), mRNA
gi|1162556358|ref|XM_007209780.2|

Nucleotide
PREDICTED: Benincasa hispida uncharacterized LOC120067907 (LOC120067907), mRNA
PREDICTED: Benincasa hispida uncharacterized LOC120067907 (LOC120067907), mRNA
gi|1955838684|ref|XM_039019531.1|

Nucleotide
hypothetical protein QMP26_07210 [Enterocloster clostridioformis]
hypothetical protein QMP26_07210 [Enterocloster clostridioformis]
gi|2745857903|gnl|PRJNA936716|QMP26 0|gb|XBX10606.1|

Protein
Sh3 domain YSC-like 1, isoform CRA_c [Mus musculus]
Sh3 domain YSC-like 1, isoform CRA_c [Mus musculus]
gi|148704975|gb|EDL36922.1||gnl|WGS |mCP10271

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002310235	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Oct 8, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002310235

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Oct 8, 2022)

germline

clinical testing

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

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

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002310235.2

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

Description

This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 43 of the COQ2 protein (p.Ala43Gly). This variant is present in population databases (rs368891722, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with COQ2-related conditions. ClinVar contains an entry for this variant (Variation ID: 214220). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	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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