NM_177559.3(CSNK2A1):c.151_152delinsCC (p.Ser51Pro) AND Okur-Chung neurodevelopmental syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Nov 15, 2022
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:: RCV002776540.2

Allele description [Variation Report for NM_177559.3(CSNK2A1):c.151_152delinsCC (p.Ser51Pro)]

NM_177559.3(CSNK2A1):c.151_152delinsCC (p.Ser51Pro)

Gene:

CSNK2A1:casein kinase 2 alpha 1 [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

20p13

Genomic location:

Preferred name:

NM_177559.3(CSNK2A1):c.151_152delinsCC (p.Ser51Pro)

HGVS:

NC_000020.11:g.505179_505180delinsGG
NG_011970.2:g.43659_43660delinsCC
NM_001362770.2:c.151_152delinsCC
NM_001362771.2:c.151_152delinsCC
NM_001895.4:c.151_152delinsCC
NM_177559.3:c.151_152delinsCCMANE SELECT
NM_177560.3:c.-258_-257delinsCC
NP_001349699.1:p.Ser51Pro
NP_001349700.1:p.Ser51Pro
NP_001886.1:p.Ser51Pro
NP_808227.1:p.Ser51Pro
NC_000020.10:g.485823_485824delinsGG

Protein change:

S51P

Molecular consequence:

NM_177560.3:c.-258_-257delinsCC - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001362770.2:c.151_152delinsCC - missense variant - [Sequence Ontology: SO:0001583]
NM_001362771.2:c.151_152delinsCC - missense variant - [Sequence Ontology: SO:0001583]
NM_001895.4:c.151_152delinsCC - missense variant - [Sequence Ontology: SO:0001583]
NM_177559.3:c.151_152delinsCC - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Okur-Chung neurodevelopmental syndrome (OCNDS)
Identifiers:: MONDO: MONDO:0014893; MedGen: C4310739; OMIM: 617062

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003035369	Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues	criteria provided, single submitter (ACGS Guidelines, 2020)	Likely pathogenic (Nov 15, 2022)	de novo	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003035369

Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

criteria provided, single submitter

(ACGS Guidelines, 2020)

Likely pathogenic
(Nov 15, 2022)

de novo

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues, SCV003035369.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 4, 2024

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