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NM_015981.4(CAMK2A):c.415G>C (p.Glu139Gln) AND Intellectual disability, autosomal dominant 53

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 7, 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:
RCV003149128.2

Allele description [Variation Report for NM_015981.4(CAMK2A):c.415G>C (p.Glu139Gln)]

NM_015981.4(CAMK2A):c.415G>C (p.Glu139Gln)

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.415G>C (p.Glu139Gln)
HGVS:
  • NC_000005.10:g.150253543C>G
  • NG_047040.1:g.41298G>C
  • NM_001363989.1:c.415G>C
  • NM_001363990.1:c.415G>C
  • NM_001369025.2:c.415G>C
  • NM_015981.4:c.415G>CMANE SELECT
  • NM_171825.3:c.415G>C
  • NP_001350918.1:p.Glu139Gln
  • NP_001350919.1:p.Glu139Gln
  • NP_001355954.1:p.Glu139Gln
  • NP_057065.2:p.Glu139Gln
  • NP_741960.1:p.Glu139Gln
  • NC_000005.9:g.149633106C>G
  • NM_015981.3:c.415G>C
Protein change:
E139Q
Molecular consequence:
  • NM_001363989.1:c.415G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363990.1:c.415G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369025.2:c.415G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015981.4:c.415G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_171825.3:c.415G>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
SCV003836677Laboratoire de Génétique Moléculaire, CHU Bordeaux
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Aug 7, 2020) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot 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 Laboratoire de Génétique Moléculaire, CHU Bordeaux, SCV003836677.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024