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NM_015981.4(CAMK2A):c.220C>T (p.Arg74Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 12, 2024
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:
RCV001575296.6

Allele description [Variation Report for NM_015981.4(CAMK2A):c.220C>T (p.Arg74Ter)]

NM_015981.4(CAMK2A):c.220C>T (p.Arg74Ter)

Gene:
CAMK2A:calcium/calmodulin dependent protein kinase II alpha [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q32
Genomic location:
Preferred name:
NM_015981.4(CAMK2A):c.220C>T (p.Arg74Ter)
HGVS:
  • NC_000005.10:g.150257615G>A
  • NG_047040.1:g.37226C>T
  • NM_001363989.1:c.220C>T
  • NM_001363990.1:c.220C>T
  • NM_001369025.2:c.220C>T
  • NM_015981.4:c.220C>TMANE SELECT
  • NM_171825.3:c.220C>T
  • NP_001350918.1:p.Arg74Ter
  • NP_001350919.1:p.Arg74Ter
  • NP_001355954.1:p.Arg74Ter
  • NP_057065.2:p.Arg74Ter
  • NP_741960.1:p.Arg74Ter
  • NC_000005.9:g.149637178G>A
  • NM_015981.3:c.220C>T
Protein change:
R74*
Links:
Molecular consequence:
  • NM_001363989.1:c.220C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001363990.1:c.220C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001369025.2:c.220C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_015981.4:c.220C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_171825.3:c.220C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001802258GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Nov 12, 2024) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV001802258.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 30, 2024