U.S. flag

An official website of the United States government

NM_001220.5(CAMK2B):c.85C>T (p.Arg29Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 2, 2020
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:
RCV000760472.3

Allele description [Variation Report for NM_001220.5(CAMK2B):c.85C>T (p.Arg29Ter)]

NM_001220.5(CAMK2B):c.85C>T (p.Arg29Ter)

Gene:
CAMK2B:calcium/calmodulin dependent protein kinase II beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p13
Genomic location:
Preferred name:
NM_001220.5(CAMK2B):c.85C>T (p.Arg29Ter)
HGVS:
  • NC_000007.14:g.44284206G>A
  • NG_029407.1:g.46426C>T
  • NM_001220.5:c.85C>TMANE SELECT
  • NM_001293170.2:c.85C>T
  • NM_172078.3:c.85C>T
  • NM_172079.3:c.85C>T
  • NM_172080.3:c.85C>T
  • NM_172081.3:c.85C>T
  • NM_172082.3:c.85C>T
  • NM_172083.3:c.85C>T
  • NM_172084.3:c.85C>T
  • NP_001211.3:p.Arg29Ter
  • NP_001280099.1:p.Arg29Ter
  • NP_742075.1:p.Arg29Ter
  • NP_742076.1:p.Arg29Ter
  • NP_742076.1:p.Arg29Ter
  • NP_742077.1:p.Arg29Ter
  • NP_742078.1:p.Arg29Ter
  • NP_742079.1:p.Arg29Ter
  • NP_742080.1:p.Arg29Ter
  • NP_742081.1:p.Arg29Ter
  • NC_000007.13:g.44323805G>A
  • NM_001220.4:c.85C>T
  • NM_172079.2:c.85C>T
  • p.(Arg29*)
Protein change:
R29*; ARG29TER
Links:
OMIM: 607707.0001; dbSNP: rs1554434435
NCBI 1000 Genomes Browser:
rs1554434435
Molecular consequence:
  • NM_001220.5:c.85C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001293170.2:c.85C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_172078.3:c.85C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_172079.3:c.85C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_172080.3:c.85C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_172081.3:c.85C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_172082.3:c.85C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_172083.3:c.85C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_172084.3:c.85C>T - nonsense - [Sequence Ontology: SO:0001587]
Functional consequence:
functionally_abnormal [Sequence Ontology: SO:0002218]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000890361GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Sep 2, 2020) 		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, SCV000890361.1

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

Description

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; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 29100089, 33796307)

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

Last Updated: Sep 30, 2023