NM_001127898.4(CLCN5):c.1047G>A (p.Trp349Ter) AND Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 1, 1997
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:: RCV000012564.25

Allele description [Variation Report for NM_001127898.4(CLCN5):c.1047G>A (p.Trp349Ter)]

NM_001127898.4(CLCN5):c.1047G>A (p.Trp349Ter)

Gene:

CLCN5:chloride voltage-gated channel 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.23

Genomic location:

Preferred name:

NM_001127898.4(CLCN5):c.1047G>A (p.Trp349Ter)

HGVS:

NC_000023.11:g.50086360G>A
NG_007159.3:g.168745G>A
NM_000084.5:c.837G>A
NM_001127898.4:c.1047G>AMANE SELECT
NM_001127899.4:c.1047G>A
NM_001282163.2:c.897G>A
NP_000075.1:p.Trp279Ter
NP_001121370.1:p.Trp349Ter
NP_001121371.1:p.Trp349Ter
NP_001269092.1:p.Trp299Ter
NC_000023.10:g.49851017G>A

Protein change:

W279*; TRP279TER

Links:

OMIM: 300008.0001; dbSNP: rs151340620

NCBI 1000 Genomes Browser:

rs151340620

Molecular consequence:

NM_000084.5:c.837G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001127898.4:c.1047G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001127899.4:c.1047G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001282163.2:c.897G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
Identifiers:: MONDO: MONDO:0010644; MedGen: C1839874; Orphanet: 1652; Orphanet: 93622; OMIM: 308990

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000032798	OMIM	no assertion criteria provided	Pathogenic (Mar 1, 1997)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 8559248, 9062355

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000032798

OMIM

no assertion criteria provided

Pathogenic
(Mar 1, 1997)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

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

Citations

PubMed

A common molecular basis for three inherited kidney stone diseases.

Lloyd SE, Pearce SH, Fisher SE, Steinmeyer K, Schwappach B, Scheinman SJ, Harding B, Bolino A, Devoto M, Goodyer P, Rigden SP, Wrong O, Jentsch TJ, Craig IW, Thakker RV.

Nature. 1996 Feb 1;379(6564):445-9.

PubMed [citation]

PMID:: 8559248

Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5).

Lloyd SE, Pearce SH, Günther W, Kawaguchi H, Igarashi T, Jentsch TJ, Thakker RV.

J Clin Invest. 1997 Mar 1;99(5):967-74.

PubMed [citation]

PMID:: 9062355
PMCID:: PMC507905

Details of each submission

From OMIM, SCV000032798.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In affected members of a family with Dent disease (DENT1; 300009), Lloyd et al. (1996) identified a G-to-A transition in the CLCN5 gene, resulting in a trp279-to-ter (W279X) substitution. The mutation was predicted to result in a loss of 469 amino acids from the D6 region to the C terminus.

Lloyd et al. (1997) identified the W279X mutation in affected members of a Japanese family with idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis (308990).

#	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

Last Updated: Jul 29, 2023

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