NM_015215.4(CAMTA1):c.882del (p.Tyr297fs) 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:: RCV001838996.1

Allele description [Variation Report for NM_015215.4(CAMTA1):c.882del (p.Tyr297fs)]

NM_015215.4(CAMTA1):c.882del (p.Tyr297fs)

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.882del (p.Tyr297fs)

HGVS:

NC_000001.11:g.7663429del
NG_053148.1:g.883106del
NM_001349608.2:c.792del
NM_001349609.2:c.882del
NM_001349610.2:c.882del
NM_001349612.2:c.792del
NM_015215.4:c.882delMANE SELECT
NP_001336537.1:p.Tyr267fs
NP_001336538.1:p.Tyr297fs
NP_001336539.1:p.Tyr297fs
NP_001336541.1:p.Tyr267fs
NP_056030.1:p.Tyr297fs
NC_000001.10:g.7723489del
NM_015215.3:c.882del
NM_015215.3:c.882delA

Protein change:

Y267fs

Links:

OMIM: 611501.0008; dbSNP: rs886041999

NCBI 1000 Genomes Browser:

rs886041999

Molecular consequence:

NM_001349608.2:c.792del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001349609.2:c.882del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001349610.2:c.882del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001349612.2:c.792del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_015215.4:c.882del - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002098949	OMIM	no assertion criteria provided	Pathogenic (Feb 24, 2022)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 33131045, 33677721

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002098949

OMIM

no assertion criteria provided

Pathogenic
(Feb 24, 2022)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature 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

Myoclonic dystonia phenotype related to a novel calmodulin-binding transcription activator 1 sequence variant.

Dzinovic I, Serranová T, Prouteau C, Colin E, Ziegler A, Winkelmann J, Jech R, Zech M.

Neurogenetics. 2021 May;22(2):137-141. doi: 10.1007/s10048-021-00637-6. Epub 2021 Mar 6. Erratum in: Neurogenetics. 2022 Jan;23(1):77. doi: 10.1007/s10048-021-00641-w.

PubMed [citation]

PMID:: 33677721

Details of each submission

From OMIM, SCV002098949.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In a 3.8-year-old girl (proband 6) with cerebellar dysfunction with variable cognitive and behavioral abnormalities (CECBA; 614756), Jacobs et al. (2021) identified a de novo heterozygous 1-bp deletion (c.882del, NM_015215.3) in exon 9 of the CAMTA1 gene, resulting in a frameshift and premature termination (Tyr297ThrfsTer93). The mutation, which was found by whole-exome sequencing and filtered against a panel, 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 hypotonia, gait ataxia, dysarthria, and dysmetria; she had speech delay, but cognitive development was in the normal range.

In a 4-year-old girl (family 2) with CECBA, Dzinovic et al. (2021) identified a de novo heterozygous c.882del mutation in the CAMTA1 gene. The mutation was found by trio-based whole-exome sequencing. Functional studies of the variant and studies of patient cells were not performed.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 5, 2023

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