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NM_015981.4(CAMK2A):c.74C>T (p.Ser25Leu) AND Intellectual disability, autosomal dominant 53

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 3, 2024
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:
RCV004666666.1

Allele description [Variation Report for NM_015981.4(CAMK2A):c.74C>T (p.Ser25Leu)]

NM_015981.4(CAMK2A):c.74C>T (p.Ser25Leu)

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.74C>T (p.Ser25Leu)
HGVS:
  • NC_000005.10:g.150273148G>A
  • NG_047040.1:g.21693C>T
  • NM_001363989.1:c.74C>T
  • NM_001363990.1:c.74C>T
  • NM_001369025.2:c.74C>T
  • NM_015981.4:c.74C>TMANE SELECT
  • NM_171825.3:c.74C>T
  • NP_001350918.1:p.Ser25Leu
  • NP_001350919.1:p.Ser25Leu
  • NP_001355954.1:p.Ser25Leu
  • NP_057065.2:p.Ser25Leu
  • NP_741960.1:p.Ser25Leu
  • NC_000005.9:g.149652711G>A
  • NM_015981.3:c.74C>T
Protein change:
S25L
Molecular consequence:
  • NM_001363989.1:c.74C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363990.1:c.74C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369025.2:c.74C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015981.4:c.74C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_171825.3:c.74C>T - 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
SCV005094568Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
criteria provided, single submitter

(ACGS Guidelines, 2020)		Uncertain significance
(Apr 3, 2024) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues, SCV005094568.1

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

Last Updated: Aug 11, 2024