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NM_025114.4(CEP290):c.5587-1G>C AND Leber congenital amaurosis

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Aug 18, 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:
RCV000787560.3

Allele description [Variation Report for NM_025114.4(CEP290):c.5587-1G>C]

NM_025114.4(CEP290):c.5587-1G>C

Gene:
CEP290:centrosomal protein 290 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q21.32
Genomic location:
Preferred name:
NM_025114.4(CEP290):c.5587-1G>C
HGVS:
  • NC_000012.12:g.88077345C>G
  • NG_008417.2:g.69872G>C
  • NM_025114.4:c.5587-1G>CMANE SELECT
  • LRG_694t1:c.5587-1G>C
  • LRG_694:g.69872G>C
  • NC_000012.11:g.88471122C>G
  • NM_025114.3:c.5587-1G>C
Links:
dbSNP: rs968692633
NCBI 1000 Genomes Browser:
rs968692633
Molecular consequence:
  • NM_025114.4:c.5587-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Leber congenital amaurosis (LCA)
Synonyms:
Congenital retinal blindness; Leber's amaurosis
Identifiers:
MONDO: MONDO:0018998; MeSH: D057130; MedGen: C0339527; OMIM: PS204000

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000926536Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet - VeluxRD
no assertion criteria provided
Pathogenic
(Apr 1, 2018) 		unknownresearch

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

SCV002091863Natera, Inc.
no assertion criteria provided
Pathogenic
(Aug 18, 2020) 		germlineclinical testing

Help

Summary from all submissions

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

Citations

PubMed

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

Jespersgaard C, Fang M, Bertelsen M, Dang X, Jensen H, Chen Y, Bech N, Dai L, Rosenberg T, Zhang J, Møller LB, Tümer Z, Brøndum-Nielsen K, Grønskov K.

Sci Rep. 2019 Feb 4;9(1):1219. doi: 10.1038/s41598-018-38007-2.

PubMed [citation]
PMID:
30718709
PMCID:
PMC6362094

Details of each submission

From Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet - VeluxRD, SCV000926536.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

From Natera, Inc., SCV002091863.1

#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: Nov 24, 2024