NM_004937.3(CTNS):c.454C>T (p.Arg152Trp) AND Cystinosis

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 13, 2020
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:
RCV001277961.1

Allele description [Variation Report for NM_004937.3(CTNS):c.454C>T (p.Arg152Trp)]

NM_004937.3(CTNS):c.454C>T (p.Arg152Trp)

Genes:
CTNS-AS1:CTNS antisense RNA 1 [Gene - HGNC]
CTNS:cystinosin, lysosomal cystine transporter [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.2
Genomic location:
Preferred name:
NM_004937.3(CTNS):c.454C>T (p.Arg152Trp)
HGVS:
  • NC_000017.11:g.3655345C>T
  • NG_012489.2:g.23878C>T
  • NM_001031681.3:c.454C>T
  • NM_001374492.1:c.454C>T
  • NM_001374493.1:c.13C>T
  • NM_001374494.1:c.13C>T
  • NM_001374495.1:c.13C>T
  • NM_001374496.1:c.13C>T
  • NM_004937.3:c.454C>TMANE SELECT
  • NP_001026851.2:p.Arg152Trp
  • NP_001361421.1:p.Arg152Trp
  • NP_001361422.1:p.Arg5Trp
  • NP_001361423.1:p.Arg5Trp
  • NP_001361424.1:p.Arg5Trp
  • NP_001361425.1:p.Arg5Trp
  • NP_004928.2:p.Arg152Trp
  • NC_000017.10:g.3558639C>T
  • NM_001031681.2:c.454C>T
  • NM_004937.2:c.454C>T
Protein change:
R152W
Links:
dbSNP: rs754433265
NCBI 1000 Genomes Browser:
rs754433265
Molecular consequence:
  • NM_001031681.3:c.454C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374492.1:c.454C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374493.1:c.13C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374494.1:c.13C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374495.1:c.13C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374496.1:c.13C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004937.3:c.454C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cystinosis
Synonyms:
Cystine diathesis; Cystine disease; Cystine storage disease; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0016239; MedGen: C4316899

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001464946Natera, Inc.
no assertion criteria provided
Uncertain significance
(Aug 13, 2020) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV001464946.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 10, 2024