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NM_015215.4(CAMTA1):c.1455dup (p.Asp486fs) AND Cerebellar dysfunction with variable cognitive and behavioral abnormalities

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 16, 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:
RCV001264739.2

Allele description [Variation Report for NM_015215.4(CAMTA1):c.1455dup (p.Asp486fs)]

NM_015215.4(CAMTA1):c.1455dup (p.Asp486fs)

Gene:
CAMTA1:calmodulin binding transcription activator 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
1p36.23
Genomic location:
Preferred name:
NM_015215.4(CAMTA1):c.1455dup (p.Asp486fs)
HGVS:
  • NC_000001.11:g.7664002dup
  • NG_053148.1:g.883679dup
  • NM_001349608.2:c.1365dup
  • NM_001349609.2:c.1455dup
  • NM_001349610.2:c.1455dup
  • NM_001349612.2:c.1365dup
  • NM_015215.4:c.1455dupMANE SELECT
  • NP_001336537.1:p.Asp456fs
  • NP_001336538.1:p.Asp486fs
  • NP_001336539.1:p.Asp486fs
  • NP_001336541.1:p.Asp456fs
  • NP_056030.1:p.Asp486fs
  • NC_000001.10:g.7724062dup
  • NM_015215.3:c.1455dupC
Protein change:
D456fs
Links:
dbSNP: rs2095982231
NCBI 1000 Genomes Browser:
rs2095982231
Molecular consequence:
  • NM_001349608.2:c.1365dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001349609.2:c.1455dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001349610.2:c.1455dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001349612.2:c.1365dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_015215.4:c.1455dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Cerebellar dysfunction with variable cognitive and behavioral abnormalities (CECBA)
Synonyms:
Nonprogressive cerebellar atxia with intellectual disability
Identifiers:
MONDO: MONDO:0013886; MedGen: C3553661; Orphanet: 314647; OMIM: 614756

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001442970Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine
no assertion criteria provided
Pathogenic
(Apr 16, 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 Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine, SCV001442970.2

#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: Apr 13, 2025