NM_001320.7(CSNK2B):c.94G>A (p.Asp32Asn) AND Poirier-Bienvenu neurodevelopmental syndrome

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Jun 11, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV003139949.3

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]

Observations:

Condition(s)

Name:: Poirier-Bienvenu neurodevelopmental syndrome (POBINDS)
Identifiers:: MONDO: MONDO:0032889; MedGen: C5231482; OMIM: 618732

Recent activity

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Pyricularia grisea uncharacterized protein (PgNI_10673), partial mRNA
Pyricularia grisea uncharacterized protein (PgNI_10673), partial mRNA
gi|1758256185|ref|XM_031130646.1|

Nucleotide
vacuolar membrane protein, putative [Cryptococcus neoformans var. neoformans JEC...
vacuolar membrane protein, putative [Cryptococcus neoformans var. neoformans JEC21]
gi|58262494|ref|XP_568657.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001423767	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSLVariantClassificationCriteria RUGD 01 April 2020)	Pathogenic (Jun 11, 2024)	unknown	clinical testing	Citation Link,
SCV003807231	Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Aug 13, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001423767

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSLVariantClassificationCriteria RUGD 01 April 2020)

Pathogenic
(Jun 11, 2024)

unknown

clinical testing

Citation Link,

SCV003807231

Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Aug 13, 2022)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	1	not provided	not provided	1	not provided	clinical 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 Illumina Laboratory Services, Illumina, SCV001423767.3

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein, SCV003807231.1

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

Description

ACMG classification criteria: PS4 strong, PM2 moderated, PM5 moderated, PM6 moderated, PP2 supporting

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

Last Updated: Oct 13, 2024

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