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NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter) AND CEP152-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 24, 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:
RCV004556749.1

Allele description [Variation Report for NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter)]

NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter)

Gene:
CEP152:centrosomal protein 152 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q21.1
Genomic location:
Preferred name:
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter)
HGVS:
  • NC_000015.10:g.48767448A>C
  • NG_027518.2:g.48699T>G
  • NM_001194998.2:c.2034T>GMANE SELECT
  • NM_014985.4:c.2034T>G
  • NP_001181927.1:p.Tyr678Ter
  • NP_055800.2:p.Tyr678Ter
  • NC_000015.9:g.49059645A>C
  • NG_027518.1:g.48699T>G
  • NM_001194998.1:c.2034T>G
  • NM_001194998.2:c.2034T>G
  • NM_014985.3:c.2034T>G
Protein change:
Y678*; TYR678TER
Links:
OMIM: 613529.0004; dbSNP: rs182018947
NCBI 1000 Genomes Browser:
rs182018947
Molecular consequence:
  • NM_001194998.2:c.2034T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_014985.4:c.2034T>G - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
CEP152-related disorder
Synonyms:
CEP152-Related Disorders; CEP152-related condition
Identifiers:
MedGen: CN239248

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005045613Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSLVariantClassificationCriteria RUGD 01 April 2020)		Pathogenic
(May 24, 2023) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV005045613.1

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

Last Updated: Nov 10, 2024