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NM_001194998.2(CEP152):c.3212del (p.Leu1071fs) AND CEP152-related disorder

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 6, 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:
RCV003230525.1

Allele description [Variation Report for NM_001194998.2(CEP152):c.3212del (p.Leu1071fs)]

NM_001194998.2(CEP152):c.3212del (p.Leu1071fs)

Gene:
CEP152:centrosomal protein 152 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
15q21.1
Genomic location:
Preferred name:
NM_001194998.2(CEP152):c.3212del (p.Leu1071fs)
HGVS:
  • NC_000015.10:g.48756039del
  • NG_027518.2:g.60111del
  • NM_001194998.2:c.3212delMANE SELECT
  • NM_014985.4:c.3212del
  • NP_001181927.1:p.Leu1071fs
  • NP_055800.2:p.Leu1071fs
  • NC_000015.9:g.49048236del
  • NG_027518.1:g.60111del
  • NM_014985.3:c.3212del
  • NM_014985.3:c.3212delT
Protein change:
L1071fs
Links:
dbSNP: rs1555418825
NCBI 1000 Genomes Browser:
rs1555418825
Molecular consequence:
  • NM_001194998.2:c.3212del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_014985.4:c.3212del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003928412Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Likely pathogenic
(Apr 6, 2023) 		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 Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV003928412.1

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

Description

Variant summary: CEP152 c.3212delT (p.Leu1071TrpfsX20) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 249464 control chromosomes (gnomAD). To our knowledge, no occurrence of c.3212delT in individuals affected with CEP152-Related Disorders and no experimental evidence demonstrating its impact on protein function have been reported. Two ClinVar submitters have assessed the variant since 2014: both classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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

Last Updated: Aug 4, 2024