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NM_025114.4(CEP290):c.7341dup (p.Leu2448fs) AND CEP290-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 9, 2024
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:
RCV004732681.1

Allele description [Variation Report for NM_025114.4(CEP290):c.7341dup (p.Leu2448fs)]

NM_025114.4(CEP290):c.7341dup (p.Leu2448fs)

Genes:
RLIG1:RNA 5'-phosphate and 3'-OH ligase 1 [Gene - HGNC]
CEP290:centrosomal protein 290 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
12q21.32
Genomic location:
Preferred name:
NM_025114.4(CEP290):c.7341dup (p.Leu2448fs)
HGVS:
  • NC_000012.12:g.88049289dup
  • NG_008417.2:g.97934dup
  • NM_001009894.3:c.*867dupMANE SELECT
  • NM_025114.4:c.7341dupMANE SELECT
  • NP_079390.3:p.Leu2448fs
  • LRG_694t1:c.7341dup
  • LRG_694:g.97934dup
  • LRG_694p1:p.Leu2448fs
  • NC_000012.11:g.88443059_88443060insT
  • NC_000012.11:g.88443066dup
  • NM_025114.3:c.7341dup
  • NM_025114.3:c.7341dupA
Protein change:
L2448fs
Links:
dbSNP: rs281865189
NCBI 1000 Genomes Browser:
rs281865189
Molecular consequence:
  • NM_001009894.3:c.*867dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_025114.4:c.7341dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
CEP290-related disorder
Synonyms:
CEP290-Related Disorders; CEP290-related condition
Identifiers:
MedGen: CN239314

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005360518PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(Apr 9, 2024) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV005360518.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The CEP290 c.7341dupA variant is predicted to result in a frameshift and premature protein termination (p.Leu2448Thrfs*8). This variant has been reported in the compound heterozygous state with a second pathogenic CEP290 variant in multiple individuals affected with Joubert syndrome, end-stage renal disease, and/or early onset severe retinal dystrophy (for example, see Supplementary Table S5 at Chaki. 2011. PubMed ID: 21866095; Feldhaus et al. 2020. PubMed ID: 31734136; Sayer et al. 2006. PubMed ID: 16682973). This variant is reported in 0.0097% of alleles in individuals of Ashkenazi Jewish descent in gnomAD. This variant is located in the last exon of CEP290 and therefore not predicted to undergo nonsense-mediated mRNA decay; however, other premature truncation variants in CEP290 have been reported both up- and downstream of this variant in the same exon (Human Gene Mutation Database, HGMD). This variant is interpreted as pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 7, 2024