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NM_001320.7(CSNK2B):c.108dup (p.Thr37fs) AND Intellectual disability and seizures

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 20, 2017
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:
RCV000495848.1

Allele description [Variation Report for NM_001320.7(CSNK2B):c.108dup (p.Thr37fs)]

NM_001320.7(CSNK2B):c.108dup (p.Thr37fs)

Gene:
CSNK2B:casein kinase 2 beta [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
6p21.33
Genomic location:
Preferred name:
NM_001320.7(CSNK2B):c.108dup (p.Thr37fs)
Other names:
CSNK2B
HGVS:
  • NC_000006.12:g.31667903dup
  • NM_001282385.2:c.108dup
  • NM_001320.7:c.108dupMANE SELECT
  • NP_001269314.1:p.Thr37fs
  • NP_001311.3:p.Thr37fs
  • NP_001311.3:p.Thr37fs
  • NC_000006.11:g.31635680dup
  • NM_001320.6:c.108dup
Nucleotide change:
1-BUP DUP, NT108
Protein change:
T37fs
Links:
OMIM: 115441.0003; dbSNP: rs1131692161
NCBI 1000 Genomes Browser:
rs1131692161
Molecular consequence:
  • NM_001282385.2:c.108dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001320.7:c.108dup - frameshift variant - [Sequence Ontology: SO:0001589]
Functional consequence:
loss_of_function_variant [Sequence Ontology: SO:0002054]

Condition(s)

Name:
Intellectual disability and seizures
Identifiers:
MedGen: CN231403

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000583466Center for Medical Genetics, Keio University School of Medicine - IRUD at Keio
no assertion criteria provided
Pathogenic
(Jun 20, 2017) 		de novoresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Asiande novoyes1not providednot providednot providednot providedresearch

Details of each submission

From Center for Medical Genetics, Keio University School of Medicine - IRUD at Keio, SCV000583466.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Asian1not providednot providedresearchnot provided

Description

A de novo frameshift mutation. The gene, CSNK2B, has been listed as a loss-of-function intolerant gene. "CSNK2B splice site mutations in patients cause intellectual disability with or withoutmyoclonic epilepsy" (DOI: 10.1002/humu.23270) Splice site mutations in CSNK2B has recently been reported as a cause of intellectual disability with or without myoclonic epilepsy.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 9, 2024