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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:
1

Condition(s)

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

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Assertion and evidence details

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Hispanicgermlineyes1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000740770.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Hispanic1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Flagged submissions

Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000740770Ambry 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) 		germlineclinical testing

Citation Link

Last Updated: Sep 29, 2024