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NM_025114.4(CEP290):c.4792_4795del (p.Lys1598fs) AND Joubert syndrome 5

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 15, 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:
RCV000785965.2

Allele description [Variation Report for NM_025114.4(CEP290):c.4792_4795del (p.Lys1598fs)]

NM_025114.4(CEP290):c.4792_4795del (p.Lys1598fs)

Gene:
CEP290:centrosomal protein 290 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
12q21.32
Genomic location:
Preferred name:
NM_025114.4(CEP290):c.4792_4795del (p.Lys1598fs)
Other names:
NM_025114.4(CEP290):c.4792_4795del; p.Lys1598fs
HGVS:
  • NC_000012.12:g.88083865TTTA[1]
  • NG_008417.2:g.63346AAAT[1]
  • NM_025114.4:c.4792_4795delMANE SELECT
  • NP_079390.3:p.Lys1598fs
  • LRG_694t1:c.4792_4795del
  • LRG_694:g.63346AAAT[1]
  • LRG_694p1:p.Lys1598fs
  • NC_000012.11:g.88477642TTTA[1]
  • NG_008417.1:g.63346AAAT[1]
  • p.Lys1598SerfsTer8
Protein change:
K1598fs
Links:
dbSNP: rs1592833648
NCBI 1000 Genomes Browser:
rs1592833648
Molecular consequence:
  • NM_025114.4:c.4792_4795del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Joubert syndrome 5 (JBTS5)
Identifiers:
MONDO: MONDO:0012432; MedGen: C1857780; Orphanet: 2318; OMIM: 610188

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000924548Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jun 15, 2018) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, SCV000924548.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)

Description

The homozygous p.Lys1598SerfsTer8 variant was identified by our study in an individual with Joubert syndrome. This variant was absent from large population studies. Loss of function of the CEP290 gene is an established disease mechanism in autosomal recessive Joubert syndrome, and this is a loss of function variant. In summary, although additional studies are required to fully establish its pathogenicity, this variant is likely pathogenic.

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

Last Updated: Mar 30, 2024