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NM_001320.7(CSNK2B):c.94G>A (p.Asp32Asn) AND CSNK2B-related intellectual disability with or without epilepsy

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 1, 2019
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:
RCV001249735.5

Allele description

NM_001320.7(CSNK2B):c.94G>A (p.Asp32Asn)

Gene:
CSNK2B:casein kinase 2 beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.33
Genomic location:
Preferred name:
NM_001320.7(CSNK2B):c.94G>A (p.Asp32Asn)
HGVS:
  • NC_000006.12:g.31667889G>A
  • NM_001282385.2:c.94G>A
  • NM_001320.7:c.94G>AMANE SELECT
  • NP_001269314.1:p.Asp32Asn
  • NP_001311.3:p.Asp32Asn
  • NP_001311.3:p.Asp32Asn
  • NC_000006.11:g.31635666G>A
  • NM_001320.5:c.94G>A
  • NM_001320.6:c.94G>A
Protein change:
D32N
Links:
dbSNP: rs1554169984
NCBI 1000 Genomes Browser:
rs1554169984
Molecular consequence:
  • NM_001282385.2:c.94G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320.7:c.94G>A - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
dominant_negative_variant [Sequence Ontology: SO:0002052]

Condition(s)

Name:
CSNK2B-related intellectual disability with or without epilepsy
Identifiers:

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001423767Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSLVariantClassificationCriteria RUGD 01 April 2020)		Uncertain significance
(Oct 1, 2019) 		unknownclinical testing

Citation Link

Help

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, SCV001423767.2

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

Description

The CSNK2B c.94G>A (p.Asp32Asn) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the Genome Aggregation Database despite good sequence coverage, so the variant is presumed to be rare. Based on the limited evidence, the p.Asp32Asn variant is classified as a variant of unknown significance for CSNK2B-related intellectual disability with or without epilepsy.

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

Last Updated: May 12, 2024