NM_001358921.2(COQ2):c.287G>A (p.Ser96Asn) AND Coenzyme Q10 deficiency, primary, 1

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Jan 4, 2018
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:: RCV000001505.15

Allele description [Variation Report for NM_001358921.2(COQ2):c.287G>A (p.Ser96Asn)]

NM_001358921.2(COQ2):c.287G>A (p.Ser96Asn)

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.287G>A (p.Ser96Asn)

HGVS:

NC_000004.12:g.83279081C>T
NG_015825.1:g.10834G>A
NM_001358921.2:c.287G>AMANE SELECT
NM_015697.9:c.437G>A
NP_001345850.1:p.Ser96Asn
NP_056512.5:p.Ser146Asn
NC_000004.11:g.84200234C>T
NM_015697.7:c.437G>A
NM_015697.8:c.437G>A

Protein change:

S146N; SER146ASN

Links:

OMIM: 609825.0005; dbSNP: rs121918233

NCBI 1000 Genomes Browser:

rs121918233

Molecular consequence:

NM_001358921.2:c.287G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_015697.9:c.437G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Coenzyme Q10 deficiency, primary, 1
Synonyms:: UBIQUINONE DEFICIENCY 1; COENZYME Q DEFICIENCY 1; CoQ DEFICIENCY 1
Identifiers:: MONDO: MONDO:0011829; MedGen: C3551954; Orphanet: 255249; OMIM: 607426

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000021660	OMIM	no assertion criteria provided	Pathogenic (Oct 1, 2007)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV001149746	Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	criteria provided, single submitter (Classification criteria August 2017)	Pathogenic (Jan 4, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000021660

OMIM

no assertion criteria provided

Pathogenic
(Oct 1, 2007)

germline

literature only

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

SCV001149746

Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

criteria provided, single submitter

(Classification criteria August 2017)

Pathogenic
(Jan 4, 2018)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	1	not provided	clinical testing
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement.

Diomedi-Camassei F, Di Giandomenico S, Santorelli FM, Caridi G, Piemonte F, Montini G, Ghiggeri GM, Murer L, Barisoni L, Pastore A, Muda AO, Valente ML, Bertini E, Emma F.

J Am Soc Nephrol. 2007 Oct;18(10):2773-80. Epub 2007 Sep 12.

PubMed [citation]

PMID:: 17855635

Details of each submission

From OMIM, SCV000021660.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In an Italian child with coenzyme Q10 deficiency-1 (607426), Diomedi-Camassei et al. (2007) identified homozygosity for a 437G-A transition in the COQ2 gene, resulting in a ser146-to-asn (S146N) substitution. Both parents were shown to be carriers and the mutation was not identified in 500 control chromosomes. The child presented with severe renal disease in the newborn period characterized as severe crescentic glomerulonephritis on biopsy at 10 days of age, developed intractable seizures and end-stage renal disease, and died at 6 months of age.

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

From Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München, SCV001149746.1

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

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

Last Updated: Apr 20, 2024

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