NM_004937.3(CTNS):c.462-7C>A AND multiple conditions

Clinical significance:Benign (Last evaluated: Dec 8, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001081203.2

Allele description [Variation Report for NM_004937.3(CTNS):c.462-7C>A]

NM_004937.3(CTNS):c.462-7C>A

Gene:
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.462-7C>A
HGVS:
  • NC_000017.11:g.3656480C>A
  • NG_012489.2:g.25013C>A
  • NM_001031681.3:c.462-7C>A
  • NM_001374492.1:c.462-7C>A
  • NM_001374493.1:c.21-7C>A
  • NM_001374494.1:c.21-7C>A
  • NM_001374495.1:c.21-7C>A
  • NM_001374496.1:c.21-7C>A
  • NM_004937.3:c.462-7C>AMANE SELECT
  • NC_000017.10:g.3559774C>A
  • NM_001031681.2:c.462-7C>A
  • NM_004937.2:c.462-7C>A
Links:
dbSNP: rs189632527
NCBI 1000 Genomes Browser:
rs189632527
Molecular consequence:
  • NM_001031681.3:c.462-7C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374492.1:c.462-7C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374493.1:c.21-7C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374494.1:c.21-7C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374495.1:c.21-7C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374496.1:c.21-7C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004937.3:c.462-7C>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Ocular cystinosis
Synonyms:
Cystinosis, ocular nonnephropathic; Cystinosis, adult, nonnephropathic; Cystinosis, benign, nonnephropathic
Identifiers:
MONDO: MONDO:0009064; MedGen: C2931013; Orphanet: 213; OMIM: 219750
Name:
Juvenile nephropathic cystinosis
Synonyms:
CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE
Identifiers:
MONDO: MONDO:0009066; MedGen: C0268626; Orphanet: 213; Orphanet: 411634; OMIM: 219900
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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001119986Invitaecriteria provided, single submitter
Benign
(Dec 8, 2020)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001119986.3

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

Last Updated: Nov 27, 2021

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