NM_001127899.3(CLCN5):c.1047G>A (p.Trp349Ter) AND Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis

Clinical significance:Pathogenic (Last evaluated: Mar 1, 1997)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000012564.24

Allele description [Variation Report for NM_001127899.3(CLCN5):c.1047G>A (p.Trp349Ter)]

NM_001127899.3(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_001127899.3(CLCN5):c.1047G>A (p.Trp349Ter)
HGVS:
  • NC_000023.11:g.50086360G>A
  • NG_007159.3:g.168745G>A
  • NM_000084.4:c.837G>A
  • NM_001127898.3:c.1047G>A
  • NM_001127899.3:c.1047G>A
  • NM_001282163.1: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
  • NM_000084.2:c.837G>A
  • NM_000084.3:c.837G>A
  • NM_001127898.1:c.1047G>A
  • NM_001127898.2:c.1047G>A
  • NM_001127899.1:c.1047G>A
  • NM_001127899.2:c.1047G>A
Protein change:
W279*; TRP279TER
Links:
OMIM: 300008.0001; dbSNP: rs151340620
NCBI 1000 Genomes Browser:
rs151340620
Molecular consequence:
  • NM_001127899.3:c.1047G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000032798OMIMno assertion criteria providedPathogenic
(Mar 1, 1997)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature 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, G√ľnther 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, SCV000032798.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In affected members of a family with Dent disease (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).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 21, 2018