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NM_015981.4(CAMK2A):c.327G>C (p.Glu109Asp) AND Intellectual disability, autosomal dominant 53

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 7, 2022
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000516151.3

Allele description [Variation Report for NM_015981.4(CAMK2A):c.327G>C (p.Glu109Asp)]

NM_015981.4(CAMK2A):c.327G>C (p.Glu109Asp)

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.327G>C (p.Glu109Asp)
HGVS:
  • NC_000005.10:g.150256777C>G
  • NG_047040.1:g.38064G>C
  • NM_001363989.1:c.327G>C
  • NM_001363990.1:c.327G>C
  • NM_001369025.2:c.327G>C
  • NM_015981.4:c.327G>CMANE SELECT
  • NM_171825.3:c.327G>C
  • NP_001350918.1:p.Glu109Asp
  • NP_001350919.1:p.Glu109Asp
  • NP_001355954.1:p.Glu109Asp
  • NP_057065.2:p.Glu109Asp
  • NP_741960.1:p.Glu109Asp
  • NP_741960.1:p.Glu109Asp
  • NC_000005.9:g.149636340C>G
  • NM_171825.2:c.327G>C
Protein change:
E109D; GLU109ASP
Links:
OMIM: 114078.0002; dbSNP: rs1287121256
NCBI 1000 Genomes Browser:
rs1287121256
Molecular consequence:
  • NM_001363989.1:c.327G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363990.1:c.327G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369025.2:c.327G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015981.4:c.327G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_171825.3:c.327G>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000612148OMIM
no assertion criteria provided
Pathogenic
(Apr 7, 2022) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Küry S, van Woerden GM, Besnard T, Proietti Onori M, Latypova X, Towne MC, Cho MT, Prescott TE, Ploeg MA, Sanders S, Stessman HAF, Pujol A, Distel B, Robak LA, Bernstein JA, Denommé-Pichon AS, Lesca G, Sellars EA, Berg J, Carré W, Busk ØL, van Bon BWM, et al.

Am J Hum Genet. 2017 Nov 2;101(5):768-788. doi: 10.1016/j.ajhg.2017.10.003.

PubMed [citation]
PMID:
29100089
PMCID:
PMC5673671

Details of each submission

From OMIM, SCV000612148.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a boy (individual 3) with autosomal dominant intellectual developmental disorder-53 (MRD53; 617798), Kury et al. (2017) identified a de novo heterozygous c.327G-C transversion (c.327G-C, NM_171825.2) in exon 5 of the CAMK2A gene, resulting in a glu109-to-asp (E109D) substitution at a conserved residue in the protein kinase domain. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, was not found in available public databases.

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

Last Updated: Sep 30, 2023