NM_024876.4(COQ8B):c.1027C>T (p.Arg343Trp) AND Nephrotic syndrome, type 9

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Dec 2, 2013
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000077757.13

Allele description [Variation Report for NM_024876.4(COQ8B):c.1027C>T (p.Arg343Trp)]

NM_024876.4(COQ8B):c.1027C>T (p.Arg343Trp)

Gene:

COQ8B:coenzyme Q8B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

Preferred name:

NM_024876.4(COQ8B):c.1027C>T (p.Arg343Trp)

HGVS:

NC_000019.10:g.40700318G>A
NG_027800.1:g.21568C>T
NM_001142555.3:c.904C>T
NM_024876.4:c.1027C>TMANE SELECT
NP_001136027.1:p.Arg302Trp
NP_079152.3:p.Arg343Trp
NC_000019.9:g.41206223G>A
NM_024876.3:c.1027C>T
Q96D53:p.Arg343Trp

Protein change:

R302W; ARG343TRP

Links:

UniProtKB: Q96D53#VAR_070555; OMIM: 615567.0005; dbSNP: rs398122981

NCBI 1000 Genomes Browser:

rs398122981

Molecular consequence:

NM_001142555.3:c.904C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_024876.4:c.1027C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Nephrotic syndrome, type 9 (NPHS9)
Identifiers:: MONDO: MONDO:0014257; MedGen: C3809965; Orphanet: 656; OMIM: 615573

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000109563	OMIM	no assertion criteria provided	Pathogenic (Dec 2, 2013)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000494116	GeneReviews	no classification provided	not provided	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000109563

OMIM

no assertion criteria provided

Pathogenic
(Dec 2, 2013)

germline

literature only

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

SCV000494116

GeneReviews

no classification provided

not provided

germline

literature only

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.

Ashraf S, Gee HY, Woerner S, Xie LX, Vega-Warner V, Lovric S, Fang H, Song X, Cattran DC, Avila-Casado C, Paterson AD, Nitschké P, Bole-Feysot C, Cochat P, Esteve-Rudd J, Haberberger B, Allen SJ, Zhou W, Airik R, Otto EA, Barua M, Al-Hamed MH, et al.

J Clin Invest. 2013 Dec;123(12):5179-89. doi: 10.1172/JCI69000. Epub 2013 Nov 25.

PubMed [citation]

PMID:: 24270420
PMCID:: PMC3859425

Details of each submission

From OMIM, SCV000109563.3

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

Description

In 2 sibs, born of consanguineous Moroccan parents, with nephrotic syndrome type 9 (NPHS9; 615573), Ashraf et al. (2013) identified a homozygous c.1027C-T transition in exon 11 of the ADCK4 gene, resulting in an arg343-to-trp (R343W) substitution at a highly conserved residue. Each unaffected parent was heterozygous for the mutation. Functional studies were not performed. The patients had onset of steroid-resistant nephrotic syndrome at ages 20 and 18 years, respectively. Renal histology in 1 patient showed collapsing focal segmental glomerulosclerosis.

#	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, SCV000494116.2

#	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

Last Updated: Nov 10, 2024

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