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NM_015981.4(CAMK2A):c.1419G>A (p.Trp473Ter) AND Intellectual disability, autosomal dominant 53

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 30, 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:
RCV003237395.1

Allele description [Variation Report for NM_015981.4(CAMK2A):c.1419G>A (p.Trp473Ter)]

NM_015981.4(CAMK2A):c.1419G>A (p.Trp473Ter)

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.1419G>A (p.Trp473Ter)
HGVS:
  • NC_000005.10:g.150223036C>T
  • NG_047040.1:g.71805G>A
  • NM_001363989.1:c.1419G>A
  • NM_001363990.1:c.1386G>A
  • NM_001369025.2:c.1386G>A
  • NM_015981.4:c.1419G>AMANE SELECT
  • NM_171825.3:c.1386G>A
  • NP_001350918.1:p.Trp473Ter
  • NP_001350919.1:p.Trp462Ter
  • NP_001355954.1:p.Trp462Ter
  • NP_057065.2:p.Trp473Ter
  • NP_741960.1:p.Trp462Ter
  • NC_000005.9:g.149602599C>T
Protein change:
W462*
Molecular consequence:
  • NM_001363989.1:c.1419G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001363990.1:c.1386G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001369025.2:c.1386G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_015981.4:c.1419G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_171825.3:c.1386G>A - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Name:
Intellectual disability, autosomal dominant 53
Synonyms:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 53; INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 53
Identifiers:
MONDO: MONDO:0030919; MedGen: C4540481; OMIM: 617798

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003936002Institute of Human Genetics, University of Goettingen
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jun 30, 2023) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Institute of Human Genetics, University of Goettingen, SCV003936002.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (1)

Description

The variant c.1419G>A (p.(Trp473*)) in exon 18 of the CAMK2A gene is not found in the gnomAD database and changes the protein sequence starting at position 473 and interrupts the reading frame prematurely. This variant affects a highly conserved nucleotide within a protein domain. ACMG criteria used for classification: PVS1_mod, PM2_mod.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Jul 8, 2023