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

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 24, 2018
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:
RCV001073923.4

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:
Retinal dystrophy
Synonyms:
Inherited retinal dystrophy
Identifiers:
MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001239488Blueprint Genetics
criteria provided, single submitter

(Blueprint Genetics Variant Classification Scheme)		Pathogenic
(Jun 24, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Blueprint Genetics, SCV001239488.1

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

Last Updated: Nov 24, 2024