NM_001127221.1(CACNA1A):c.4636C>T (p.Arg1546Ter) AND Episodic ataxia type 2

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 7, 2017
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:: RCV000009032.3

Allele description

NM_001127221.1(CACNA1A):c.4636C>T (p.Arg1546Ter)

Gene:

CACNA1A:calcium voltage-gated channel subunit alpha1 A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.13

Genomic location:

Preferred name:

NM_001127221.1(CACNA1A):c.4636C>T (p.Arg1546Ter)

HGVS:

NC_000019.10:g.13255217G>A
NG_011569.1:g.256244C>T
NM_001127221.1:c.4636C>T
NP_001120693.1:p.Arg1546Ter
LRG_7t1:c.4636C>T
LRG_7:g.256244C>T
LRG_7p1:p.Arg1546Ter
NC_000019.9:g.13366031G>A

Protein change:

R1546*; ARG1549TER

Links:

OMIM: 601011.0021; dbSNP: rs121909324

NCBI 1000 Genomes Browser:

rs121909324

Molecular consequence:

NM_001127221.1:c.4636C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Episodic ataxia type 2 (EA2)
Identifiers:: MedGen: C1720416; Orphanet: 97; OMIM: 108500

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000029249	OMIM	no assertion criteria provided	Pathogenic (Sep 7, 2017)	germline	literature only	Jen, J., Yue, Q., Nelson, S. F., Yu, H., Litt, M., Nutt, J., Baloh, R. W. A novel nonsense mutation in CACNA1A causes episodic ataxia and hemiplegia. Neurology 53: 34-37, 1999.

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000029249

OMIM

no assertion criteria provided

Pathogenic
(Sep 7, 2017)

germline

literature only

Jen, J., Yue, Q., Nelson, S. F., Yu, H., Litt, M., Nutt, J., Baloh, R. W. A novel nonsense mutation in CACNA1A causes episodic ataxia and hemiplegia. Neurology 53: 34-37, 1999.

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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

Details of each submission

From OMIM, SCV000029249.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	not provided

Description

Jen et al. (1999) reported affected members of a family with episodic ataxia type 2 (108500) who carried a 4914C-T substitution in exon 29 of the CACNA1A gene. The substitution resulted in an arg1549-to-ter (R1549X) mutation (reported in the article as ARG1547TER) that predicts a truncated product containing the first 3 domains of the protein. The patients experienced attacks of vertigo, truncal and limb ataxia, nystagmus, and diffuse weakness during ataxic spells. See also 601011.0020.

#	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: Mar 26, 2018

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