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

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 3, 2017
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:
RCV000577915.2

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
Synonyms:
Intellectual functioning disability; intellectual disabilities; Intellectual developmental disorder
Identifiers:
MONDO: MONDO:0001071; MeSH: D008607; MedGen: C3714756; Human Phenotype Ontology: HP:0001249

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000583479Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes
no assertion criteria provided
Pathogenic
(Jul 3, 2017) 		de novoresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedresearch
not providedde novoyes1not providednot provided1not providedresearch

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 Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes, SCV000583479.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
2not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyes1not providednot provided1not providednot providednot provided
2de novoyesnot providedBrainassert pathogenicitynot providednot providednot providednot provided

Last Updated: Sep 30, 2023