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NM_025114.4(CEP290):c.4920C>G (p.Leu1640=) AND Retinal dystrophy

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 1, 2023
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:
RCV003889054.1

Allele description [Variation Report for NM_025114.4(CEP290):c.4920C>G (p.Leu1640=)]

NM_025114.4(CEP290):c.4920C>G (p.Leu1640=)

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.4920C>G (p.Leu1640=)
HGVS:
  • NC_000012.12:g.88083123G>C
  • NG_008417.2:g.64094C>G
  • NM_025114.4:c.4920C>GMANE SELECT
  • NP_079390.3:p.Leu1640=
  • LRG_694t1:c.4920C>G
  • LRG_694:g.64094C>G
  • LRG_694p1:p.Leu1640=
  • NC_000012.11:g.88476900G>C
  • NG_008417.1:g.64094C>G
Links:
dbSNP: rs1330745435
NCBI 1000 Genomes Browser:
rs1330745435
Molecular consequence:
  • NM_025114.4:c.4920C>G - synonymous variant - [Sequence Ontology: SO:0001819]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004707657Dept Of Ophthalmology, Nagoya University
criteria provided, single submitter

(Submitter's publication)		Uncertain significance
(Oct 1, 2023) 		germlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Dept Of Ophthalmology, Nagoya University, SCV004707657.1

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

Last Updated: Sep 29, 2024