NM_001320.7(CSNK2B):c.94G>A (p.Asp32Asn) AND Inborn genetic diseases

Germline classification:: no classifications from unflagged records (1 submission)
Last evaluated:: May 10, 2024
Review status:: no classifications from unflagged records

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:: RCV000624714.4

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]

Observations:

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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No clinical assertions found. See "Flagged submissions" below.

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Hispanic	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV000740770.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Hispanic	1	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	germline	yes	1	not provided	not provided		1	not provided	not provided	not provided

Flagged submissions

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000740770	Ambry Genetics	flagged submission Reason: Older claim that does not account for recent evidence Notes: None (Ambry exome assertion method (8-5-2015))	Uncertain significance (Oct 5, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000740770

Ambry Genetics

flagged submission

Reason: Older claim that does not account for recent evidence

Notes: None

(Ambry exome assertion method (8-5-2015))

Uncertain significance
(Oct 5, 2016)

germline

clinical testing

Citation Link

Last Updated: Nov 3, 2024

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Relating variation to medicine