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NM_004937.3(CTNS):c.425_427del (p.Phe142del) AND Nephropathic cystinosis

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 10, 2017
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:
RCV000667017.2

Allele description [Variation Report for NM_004937.3(CTNS):c.425_427del (p.Phe142del)]

NM_004937.3(CTNS):c.425_427del (p.Phe142del)

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.425_427del (p.Phe142del)
HGVS:
  • NC_000017.11:g.3655316_3655318del
  • NG_012489.2:g.23849_23851del
  • NM_001031681.3:c.425_427del
  • NM_001374492.1:c.425_427del
  • NM_001374493.1:c.-17_-15del
  • NM_001374494.1:c.-17_-15del
  • NM_001374495.1:c.-17_-15del
  • NM_001374496.1:c.-17_-15del
  • NM_004937.3:c.425_427delMANE SELECT
  • NP_001026851.2:p.Phe142del
  • NP_001361421.1:p.Phe142del
  • NP_004928.2:p.Phe142del
  • NC_000017.10:g.3558610_3558612del
  • NM_004937.2:c.425_427delTCT
Protein change:
F142del
Links:
dbSNP: rs1178364162
NCBI 1000 Genomes Browser:
rs1178364162
Molecular consequence:
  • NM_001374493.1:c.-17_-15del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001374494.1:c.-17_-15del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001374495.1:c.-17_-15del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001374496.1:c.-17_-15del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001031681.3:c.425_427del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001374492.1:c.425_427del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_004937.3:c.425_427del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
Nephropathic cystinosis (CTNS)
Synonyms:
CYSTINOSIN, DEFECT OF; LYSOSOMAL CYSTINE TRANSPORT PROTEIN, 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
SCV000791404Counsyl
no assertion criteria provided
Uncertain significance
(May 10, 2017) 		unknownclinical testing

Help

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000791404.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This submission and the accompanying classification are no longer maintained by the submitter. For more information on current observations and classification, please contact variantquestions@myriad.com.

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

Last Updated: Jul 5, 2025