NM_182476.3(COQ6):c.644G>T (p.Arg215Leu) AND Familial steroid-resistant nephrotic syndrome with sensorineural deafness

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 2, 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:: RCV003333485.2

Allele description [Variation Report for NM_182476.3(COQ6):c.644G>T (p.Arg215Leu)]

NM_182476.3(COQ6):c.644G>T (p.Arg215Leu)

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.644G>T (p.Arg215Leu)

HGVS:

NC_000014.9:g.73959002G>T
NG_032805.1:g.14069G>T
NM_001330189.2:c.*528C>A
NM_001382258.1:c.1201-3415C>A
NM_001382259.1:c.*528C>A
NM_001382260.1:c.*528C>A
NM_001382262.1:c.1201-3174C>A
NM_001425255.1:c.644G>T
NM_001425256.1:c.644G>T
NM_001425257.1:c.479G>T
NM_001425258.1:c.569G>T
NM_001425259.1:c.419G>T
NM_001425260.1:c.419G>T
NM_001425261.1:c.419G>T
NM_001425262.1:c.389G>T
NM_001425263.1:c.317G>T
NM_001425264.1:c.104G>T
NM_001425265.1:c.104G>T
NM_182476.3:c.644G>TMANE SELECT
NM_182480.3:c.569G>T
NP_001412184.1:p.Arg215Leu
NP_001412185.1:p.Arg215Leu
NP_001412186.1:p.Arg160Leu
NP_001412187.1:p.Arg190Leu
NP_001412188.1:p.Arg140Leu
NP_001412189.1:p.Arg140Leu
NP_001412190.1:p.Arg140Leu
NP_001412191.1:p.Arg130Leu
NP_001412192.1:p.Arg106Leu
NP_001412193.1:p.Arg35Leu
NP_001412194.1:p.Arg35Leu
NP_872282.1:p.Arg215Leu
NP_872286.2:p.Arg190Leu
NC_000014.8:g.74425705G>T

Protein change:

R190L

Molecular consequence:

NM_001330189.2:c.*528C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001382259.1:c.*528C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001382260.1:c.*528C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001382258.1:c.1201-3415C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001382262.1:c.1201-3174C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001425255.1:c.644G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001425256.1:c.644G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001425257.1:c.479G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001425258.1:c.569G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001425259.1:c.419G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001425260.1:c.419G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001425261.1:c.419G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001425262.1:c.389G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001425263.1:c.317G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001425264.1:c.104G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001425265.1:c.104G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_182476.3:c.644G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_182480.3:c.569G>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV004041095	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Feb 2, 2023)	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

SCV004041095

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Feb 2, 2023)

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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

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 Baylor Genetics, SCV004041095.1

#	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 10, 2024

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