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NM_015981.4(CAMK2A):c.220C>T (p.Arg74Ter) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 27, 2020
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:
RCV001270422.2

Allele description [Variation Report for NM_015981.4(CAMK2A):c.220C>T (p.Arg74Ter)]

NM_015981.4(CAMK2A):c.220C>T (p.Arg74Ter)

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.220C>T (p.Arg74Ter)
HGVS:
  • NC_000005.10:g.150257615G>A
  • NG_047040.1:g.37226C>T
  • NM_001363989.1:c.220C>T
  • NM_001363990.1:c.220C>T
  • NM_001369025.2:c.220C>T
  • NM_015981.4:c.220C>TMANE SELECT
  • NM_171825.3:c.220C>T
  • NP_001350918.1:p.Arg74Ter
  • NP_001350919.1:p.Arg74Ter
  • NP_001355954.1:p.Arg74Ter
  • NP_057065.2:p.Arg74Ter
  • NP_741960.1:p.Arg74Ter
  • NC_000005.9:g.149637178G>A
  • NM_015981.3:c.220C>T
Protein change:
R74*
Links:
Molecular consequence:
  • NM_001363989.1:c.220C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001363990.1:c.220C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001369025.2:c.220C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_015981.4:c.220C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_171825.3:c.220C>T - nonsense - [Sequence Ontology: SO:0001587]

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
Name:
Intellectual disability, autosomal recessive 63
Synonyms:
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 63; MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63
Identifiers:
MONDO: MONDO:0054861; MedGen: C4748167; OMIM: 618095

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001450709Service de Génétique Moléculaire, Hôpital Robert Debré
no assertion criteria provided
Likely pathogenic
(Apr 27, 2020) 		de novoclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Service de Génétique Moléculaire, Hôpital Robert Debré, SCV001450709.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 30, 2024