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NM_015215.4(CAMTA1):c.838del (p.Ser280fs) AND Cerebellar dysfunction with variable cognitive and behavioral abnormalities

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 24, 2022
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:
RCV001839006.1

Allele description [Variation Report for NM_015215.4(CAMTA1):c.838del (p.Ser280fs)]

NM_015215.4(CAMTA1):c.838del (p.Ser280fs)

Gene:
CAMTA1:calmodulin binding transcription activator 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1p36.23
Genomic location:
Preferred name:
NM_015215.4(CAMTA1):c.838del (p.Ser280fs)
HGVS:
  • NC_000001.11:g.7663385del
  • NG_053148.1:g.883062del
  • NM_001349608.2:c.748del
  • NM_001349609.2:c.838del
  • NM_001349610.2:c.838del
  • NM_001349612.2:c.748del
  • NM_015215.4:c.838delMANE SELECT
  • NP_001336537.1:p.Ser250fs
  • NP_001336538.1:p.Ser280fs
  • NP_001336539.1:p.Ser280fs
  • NP_001336541.1:p.Ser250fs
  • NP_056030.1:p.Ser280fs
  • NC_000001.10:g.7723445del
  • NC_000001.10:g.7723445delA
  • NM_015215.3:c.838del
  • NM_015215.3:c.838delA
Protein change:
S250fs
Links:
OMIM: 611501.0007; dbSNP: rs1064796146
NCBI 1000 Genomes Browser:
rs1064796146
Molecular consequence:
  • NM_001349608.2:c.748del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001349609.2:c.838del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001349610.2:c.838del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001349612.2:c.748del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_015215.4:c.838del - 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
SCV002098948OMIM
no assertion criteria provided
Pathogenic
(Feb 24, 2022) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants.

Jacobs EZ, Brown K, Byler MC, D'haenens E, Dheedene A, Henderson LB, Humberson JB, van Jaarsveld RH, Kanani F, Lebel RR, Millan F, Oegema R, Oostra A, Parker MJ, Rhodes L, Saenz M, Seaver LH, Si Y, Vanlander A, Vergult S, Callewaert B.

Clin Genet. 2021 Feb;99(2):259-268. doi: 10.1111/cge.13874. Epub 2020 Nov 23.

PubMed [citation]
PMID:
33131045

Details of each submission

From OMIM, SCV002098948.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 9-year-old girl (proband 5) with cerebellar dysfunction with variable cognitive and behavioral abnormalities (CECBA; 614756), Jacobs et al. (2021) identified a heterozygous 1-bp deletion (c.838del, NM_015215.3) in exon 9 of the CAMTA1 gene, resulting in a frameshift and premature termination (Ser280AlafsTer110). The mutation, which was found by targeted exome sequencing, was inherited from the mildly affected mother. The variant was not present in the gnomAD database. Functional studies of the variant and studies of patient cells were not performed, but it was predicted to result in nonsense-mediated mRNA decay or production of a truncated protein with a loss-of-function effect and haploinsufficiency. The patient had global developmental delay, hypotonia, and gait ataxia.

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

Last Updated: Sep 29, 2024