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NM_025114.4(CEP290):c.4813-2A>G AND Joubert syndrome 5

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 4, 2022
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:
RCV002248731.1

Allele description [Variation Report for NM_025114.4(CEP290):c.4813-2A>G]

NM_025114.4(CEP290):c.4813-2A>G

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.4813-2A>G
HGVS:
  • NC_000012.12:g.88083232T>C
  • NG_008417.2:g.63985A>G
  • NM_025114.4:c.4813-2A>GMANE SELECT
  • LRG_694t1:c.4813-2A>G
  • LRG_694:g.63985A>G
  • NC_000012.11:g.88477009T>C
  • NM_025114.3:c.4813-2A>G
Links:
dbSNP: rs369523378
NCBI 1000 Genomes Browser:
rs369523378
Molecular consequence:
  • NM_025114.4:c.4813-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002518662Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2019)		Pathogenic
(May 4, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Mendelics, SCV002518662.1

#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