NM_182476.3(COQ6):c.564G>A (p.Trp188Ter) AND Familial steroid-resistant nephrotic syndrome with sensorineural deafness

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Feb 25, 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:: RCV000416383.14

Allele description [Variation Report for NM_182476.3(COQ6):c.564G>A (p.Trp188Ter)]

NM_182476.3(COQ6):c.564G>A (p.Trp188Ter)

Genes:

COQ6:coenzyme Q6, monooxygenase [Gene - OMIM - HGNC]
ENTPD5:ectonucleoside triphosphate diphosphohydrolase 5 (inactive) [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q24.3

Genomic location:

Preferred name:

NM_182476.3(COQ6):c.564G>A (p.Trp188Ter)

HGVS:

NC_000014.9:g.73958229G>A
NG_032805.1:g.13296G>A
NM_001330189.2:c.*1301C>T
NM_001382258.1:c.1201-2642C>T
NM_001382259.1:c.*1301C>T
NM_001382260.1:c.*1301C>T
NM_001382262.1:c.1201-2401C>T
NM_001425255.1:c.564G>A
NM_001425256.1:c.564G>A
NM_001425257.1:c.399G>A
NM_001425258.1:c.489G>A
NM_001425259.1:c.339G>A
NM_001425260.1:c.339G>A
NM_001425261.1:c.339G>A
NM_001425262.1:c.358-742G>A
NM_001425263.1:c.237G>A
NM_001425264.1:c.73-742G>A
NM_001425265.1:c.73-742G>A
NM_182476.3:c.564G>AMANE SELECT
NM_182476.3:c.564G>A
NM_182480.3:c.489G>A
NP_001412184.1:p.Trp188Ter
NP_001412185.1:p.Trp188Ter
NP_001412186.1:p.Trp133Ter
NP_001412187.1:p.Trp163Ter
NP_001412188.1:p.Trp113Ter
NP_001412189.1:p.Trp113Ter
NP_001412190.1:p.Trp113Ter
NP_001412192.1:p.Trp79Ter
NP_872282.1:p.Trp188Ter
NP_872286.2:p.Trp163Ter
NC_000014.8:g.74424932G>A
NM_182476.2:c.564G>A

Protein change:

W163*; TRP188TER

Links:

OMIM: 614647.0006; dbSNP: rs1057519349

NCBI 1000 Genomes Browser:

rs1057519349

Molecular consequence:

NM_001330189.2:c.*1301C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001382259.1:c.*1301C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001382260.1:c.*1301C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001382258.1:c.1201-2642C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001382262.1:c.1201-2401C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001425262.1:c.358-742G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001425264.1:c.73-742G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001425265.1:c.73-742G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001425255.1:c.564G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001425256.1:c.564G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001425257.1:c.399G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001425258.1:c.489G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001425259.1:c.339G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001425260.1:c.339G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001425261.1:c.339G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001425263.1:c.237G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_182476.3:c.564G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_182480.3:c.489G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Familial steroid-resistant nephrotic syndrome with sensorineural deafness
Synonyms:: Coenzyme Q10 deficiency, primary, 6
Identifiers:: MONDO: MONDO:0013836; MedGen: C3553349; Orphanet: 280406; OMIM: 614650

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000045595	OMIM	no assertion criteria provided	Pathogenic (May 1, 2011)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000494135	GeneReviews	no classification provided	not provided	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV002813915	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Feb 25, 2022)	unknown	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

SCV000045595

OMIM

no assertion criteria provided

Pathogenic
(May 1, 2011)

germline

literature only

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

SCV000494135

GeneReviews

no classification provided

not provided

germline

literature only

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

SCV002813915

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Feb 25, 2022)

unknown

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	literature only
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.

Heeringa SF, Chernin G, Chaki M, Zhou W, Sloan AJ, Ji Z, Xie LX, Salviati L, Hurd TW, Vega-Warner V, Killen PD, Raphael Y, Ashraf S, Ovunc B, Schoeb DS, McLaughlin HM, Airik R, Vlangos CN, Gbadegesin R, Hinkes B, Saisawat P, Trevisson E, et al.

J Clin Invest. 2011 May;121(5):2013-24. doi: 10.1172/JCI45693. Epub 2011 Apr 11.

PubMed [citation]

PMID:: 21540551
PMCID:: PMC3083770

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From OMIM, SCV000045595.4

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

Description

In a patient with coenzyme Q10 deficiency-6 (COQ10D6; 614650) manifest as nephrotic syndrome, Heeringa et al. (2011) identified a heterozygous 564G-A transition in exon 5 of the COQ6 gene, resulting in a trp188-to-ter (W188X) substitution in the monooxygenase domain. The mutation was not identified in 150 controls. A second pathogenic mutation in the COQ6 gene was not identified. The patient had diffuse mesangial sclerosis on renal biopsy.

#	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 GeneReviews, SCV000494135.2

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

#	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

From Fulgent Genetics, Fulgent Genetics, SCV002813915.1

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

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

Last Updated: Nov 24, 2024

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