NM_015981.4(CAMK2A):c.82C>T (p.Arg28Ter) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 24, 2023
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:: RCV003443023.1

Allele description [Variation Report for NM_015981.4(CAMK2A):c.82C>T (p.Arg28Ter)]

NM_015981.4(CAMK2A):c.82C>T (p.Arg28Ter)

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.82C>T (p.Arg28Ter)

HGVS:

NC_000005.10:g.150273140G>A
NG_047040.1:g.21701C>T
NM_001363989.1:c.82C>T
NM_001363990.1:c.82C>T
NM_001369025.2:c.82C>T
NM_015981.4:c.82C>TMANE SELECT
NM_171825.3:c.82C>T
NP_001350918.1:p.Arg28Ter
NP_001350919.1:p.Arg28Ter
NP_001355954.1:p.Arg28Ter
NP_057065.2:p.Arg28Ter
NP_741960.1:p.Arg28Ter
NC_000005.9:g.149652703G>A
NM_015981.3:c.82C>T

Protein change:

R28*

Links:

dbSNP: rs751885208

NCBI 1000 Genomes Browser:

rs751885208

Molecular consequence:

NM_001363989.1:c.82C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001363990.1:c.82C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001369025.2:c.82C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_015981.4:c.82C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_171825.3:c.82C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004168541	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Apr 24, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004168541

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Apr 24, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV004168541.1

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

Description

Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene or region of a gene for which loss of function is not a well-established mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: May 16, 2025

ClinVar

Relating variation to medicine