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NM_004937.3(CTNS):c.60_61del (p.Cys20_Glu21delinsTer) AND Nephropathic cystinosis

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 1, 1998
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:
RCV000004692.3

Allele description [Variation Report for NM_004937.3(CTNS):c.60_61del (p.Cys20_Glu21delinsTer)]

NM_004937.3(CTNS):c.60_61del (p.Cys20_Glu21delinsTer)

Gene:
CTNS:cystinosin, lysosomal cystine transporter [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
17p13.2
Genomic location:
Preferred name:
NM_004937.3(CTNS):c.60_61del (p.Cys20_Glu21delinsTer)
HGVS:
  • NC_000017.11:g.3640264TG[1]
  • NG_012489.2:g.8797TG[1]
  • NG_052852.1:g.1056CA[1]
  • NM_001031681.3:c.60_61del
  • NM_001374492.1:c.60_61del
  • NM_001374493.1:c.-299TG[1]
  • NM_001374494.1:c.-381+2950_-381+2951del
  • NM_001374495.1:c.-220TG[1]
  • NM_001374496.1:c.-296+2950_-296+2951del
  • NM_004937.3:c.60_61delMANE SELECT
  • NP_001026851.2:p.Cys20_Glu21delinsTer
  • NP_001361421.1:p.Cys20_Glu21delinsTer
  • NP_004928.2:p.Cys20_Glu21delinsTer
  • NC_000017.10:g.3543558TG[1]
  • NM_004937.2:c.60_61del
Note:
ClinGen staff contributed the HGVS expression for this variant.
Links:
OMIM: 606272.0002; dbSNP: rs1567695026
NCBI 1000 Genomes Browser:
rs1567695026
Molecular consequence:
  • NM_001374493.1:c.-299TG[1] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001374495.1:c.-220TG[1] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001374494.1:c.-381+2950_-381+2951del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374496.1:c.-296+2950_-296+2951del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001031681.3:c.60_61del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374492.1:c.60_61del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_004937.3:c.60_61del - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Nephropathic cystinosis (CTNS)
Synonyms:
Lysosomal cystine transport protein, defect of; Cystinosin, defect of; Abderhalden Lignac Kaufmann disease; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0100151; MedGen: C2931187; Orphanet: 213; Orphanet: 411629; OMIM: 219800

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000024867OMIM
no assertion criteria provided
Pathogenic
(Apr 1, 1998) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis.

Town M, Jean G, Cherqui S, Attard M, Forestier L, Whitmore SA, Callen DF, Gribouval O, Broyer M, Bates GP, van't Hoff W, Antignac C.

Nat Genet. 1998 Apr;18(4):319-24.

PubMed [citation]
PMID:
9537412

Details of each submission

From OMIM, SCV000024867.2

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

Description

In 2 families from central France, Town et al. (1998) found that nephropathic cystinosis (219800) was associated with hemizygosity for the same 2-bp deletion of the CTNS gene: deletion of TG at 397/399 resulted in a stop codon at the site of the mutation. The 2 families shared a common haplotype that segregated with the deletion. Deletion of the second allele was present in affected members of each family.

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

Last Updated: Apr 23, 2022