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NM_015981.4(CAMK2A):c.400C>T (p.Arg134Trp) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 13, 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:
RCV004600629.1

Allele description [Variation Report for NM_015981.4(CAMK2A):c.400C>T (p.Arg134Trp)]

NM_015981.4(CAMK2A):c.400C>T (p.Arg134Trp)

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.400C>T (p.Arg134Trp)
HGVS:
  • NC_000005.10:g.150256584G>A
  • NG_047040.1:g.38257C>T
  • NM_001363989.1:c.400C>T
  • NM_001363990.1:c.400C>T
  • NM_001369025.2:c.400C>T
  • NM_015981.4:c.400C>TMANE SELECT
  • NM_171825.3:c.400C>T
  • NP_001350918.1:p.Arg134Trp
  • NP_001350919.1:p.Arg134Trp
  • NP_001355954.1:p.Arg134Trp
  • NP_057065.2:p.Arg134Trp
  • NP_741960.1:p.Arg134Trp
  • NC_000005.9:g.149636147G>A
  • NM_015981.3:c.400C>T
Protein change:
R134W
Molecular consequence:
  • NM_001363989.1:c.400C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363990.1:c.400C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369025.2:c.400C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015981.4:c.400C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_171825.3:c.400C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005094896Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 13, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV005094896.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.400C>T (p.R134W) alteration is located in exon 6 (coding exon 6) of the CAMK2A gene. This alteration results from a C to T substitution at nucleotide position 400, causing the arginine (R) at amino acid position 134 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Aug 11, 2024