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

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 11, 2022
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:
RCV002221564.2

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:
Seizure
Synonyms:
Seizures
Identifiers:
MedGen: C0036572; Human Phenotype Ontology: HP:0001250
Name:
Syndactyly
Synonyms:
Webbed fingers or toes
Identifiers:
MONDO: MONDO:0021002; MedGen: C0039075; Human Phenotype Ontology: HP:0001159
Name:
Tapered finger
Synonyms:
Tapered fingers
Identifiers:
MedGen: C0426886; Human Phenotype Ontology: HP:0001182
Name:
Deeply set eye
Synonyms:
Enophthalmos
Identifiers:
MONDO: MONDO:0001210; MedGen: C0423224; Human Phenotype Ontology: HP:0000490
Name:
Pointed chin
Identifiers:
MedGen: C1844505; Human Phenotype Ontology: HP:0000307
Name:
Mandibular prognathia
Synonyms:
Habsburg jaw; Hapsburg jaw
Identifiers:
MONDO: MONDO:0008312; MeSH: D008313; MedGen: C0399526; OMIM: 176700; Human Phenotype Ontology: HP:0000303
Name:
Abnormal facial shape
Synonyms:
Dysmorphic facies; Dysmorphic facial features
Identifiers:
MedGen: C0424503; Human Phenotype Ontology: HP:0001999
Name:
Thin upper lip vermilion
Identifiers:
MedGen: C1865017; Human Phenotype Ontology: HP:0000219
Name:
Underdeveloped nasal alae
Identifiers:
MedGen: C1834055; Human Phenotype Ontology: HP:0000430
Name:
Intellectual disability
Synonyms:
Intellectual functioning disability; intellectual disabilities; Intellectual developmental disorder
Identifiers:
MONDO: MONDO:0001071; MeSH: D008607; MedGen: C3714756; Human Phenotype Ontology: HP:0001249
Name:
Toe clinodactyly
Identifiers:
MedGen: C4021770; Human Phenotype Ontology: HP:0001863
Name:
Asymmetry of the ears
Identifiers:
MedGen: C1168239; Human Phenotype Ontology: HP:0010722

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002498743Cologne Center for Genomics, Faculty of Medicine, University of Cologne
no assertion criteria provided
Pathogenic
(Apr 11, 2022) 		de novoresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Cologne Center for Genomics, Faculty of Medicine, University of Cologne, SCV002498743.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedresearchnot provided

Description

Causing a new intellectual disability-craniodigital syndrome (IDCS)

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

Last Updated: Sep 1, 2024