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NM_004937.3(CTNS):c.320_323del (p.Asn107fs) AND Nephropathic cystinosis

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 3, 2017
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:
RCV000670480.1

Allele description [Variation Report for NM_004937.3(CTNS):c.320_323del (p.Asn107fs)]

NM_004937.3(CTNS):c.320_323del (p.Asn107fs)

Genes:
CTNS-AS1:CTNS antisense RNA 1 [Gene - HGNC]
CTNS:cystinosin, lysosomal cystine transporter [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17p13.2
Genomic location:
Preferred name:
NM_004937.3(CTNS):c.320_323del (p.Asn107fs)
HGVS:
  • NC_000017.11:g.3655092_3655095del
  • NG_012489.2:g.23625_23628del
  • NM_001031681.3:c.320_323del
  • NM_001374492.1:c.320_323del
  • NM_001374493.1:c.-122_-119del
  • NM_001374494.1:c.-122_-119del
  • NM_001374495.1:c.-122_-119del
  • NM_001374496.1:c.-122_-119del
  • NM_004937.3:c.320_323delMANE SELECT
  • NP_001026851.2:p.Asn107fs
  • NP_001361421.1:p.Asn107fs
  • NP_004928.2:p.Asn107fs
  • NC_000017.10:g.3558386_3558389del
  • NM_004937.2:c.320_323delATCA
Protein change:
N107fs
Links:
dbSNP: rs1555562830
NCBI 1000 Genomes Browser:
rs1555562830
Molecular consequence:
  • NM_001374493.1:c.-122_-119del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001374494.1:c.-122_-119del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001374495.1:c.-122_-119del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001374496.1:c.-122_-119del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001031681.3:c.320_323del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001374492.1:c.320_323del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_004937.3:c.320_323del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000795336Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Likely pathogenic
(Nov 3, 2017) 		unknownclinical testing

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Analysis of the CTNS gene in 32 cystinosis patients from Spain.

Macías-Vidal J, Rodés M, Hernández-Pérez JM, Vilaseca MA, Coll MJ.

Clin Genet. 2009 Nov;76(5):486-9. doi: 10.1111/j.1399-0004.2009.01222.x. No abstract available.

PubMed [citation]
PMID:
19863563

Details of each submission

From Counsyl, SCV000795336.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022