U.S. flag

An official website of the United States government

NM_001320.7(CSNK2B):c.94G>A (p.Asp32Asn) AND CSNK2B-related disorder

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 8, 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:
RCV003411469.4

Allele description [Variation Report for NM_001320.7(CSNK2B):c.94G>A (p.Asp32Asn)]

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 disorder
Synonyms:
CSNK2B-related condition
Identifiers:

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004113125PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Feb 8, 2023) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004113125.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The CSNK2B c.94G>A variant is predicted to result in the amino acid substitution p.Asp32Asn. This variant has been reported de novo in an individual with profound developmental delay, intellectual disability, cerebellar atrophy and additional neurologic features (Tables 2 and S1, Subject 329, Hiraide et al. 2021. PubMed ID: 33644862). This variant has also been reported de novo in an additional individual with moderate intellectual disability, wide-based ataxic gait, mild dysmorphic features, and absence seizures (Table S1, Ernst et al. 2021. PubMed ID: 34041744). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Of note, de novo variants in this gene are commonly reported to be causative for CSNK2B-associated disorders (Okur et al. 2016. PubMed ID: 27048600; Nakashima et al. 2019. PubMed ID: 30655572; Li et al. 2019. PubMed ID: 31784560). This variant is interpreted as likely pathogenic.

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

Last Updated: Nov 3, 2024