U.S. flag

An official website of the United States government

NM_001127222.2(CACNA1A):c.3411dup (p.Lys1138fs) AND Episodic ataxia type 2

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 6, 2021
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:
RCV001553543.2

Allele description [Variation Report for NM_001127222.2(CACNA1A):c.3411dup (p.Lys1138fs)]

NM_001127222.2(CACNA1A):c.3411dup (p.Lys1138fs)

Gene:
CACNA1A:calcium voltage-gated channel subunit alpha1 A [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
19p13.13
Genomic location:
Preferred name:
NM_001127222.2(CACNA1A):c.3411dup (p.Lys1138fs)
Other names:
NP_001120693.1,p.Lys1139fs
HGVS:
  • NC_000019.10:g.13286651dup
  • NG_011569.1:g.224816dup
  • NM_000068.4:c.3423dup
  • NM_001127221.2:c.3414dup
  • NM_001127222.2:c.3411dupMANE SELECT
  • NM_001174080.2:c.3414dup
  • NM_023035.3:c.3423dup
  • NP_000059.3:p.Lys1142fs
  • NP_001120693.1:p.Lys1139fs
  • NP_001120694.1:p.Lys1138fs
  • NP_001167551.1:p.Lys1139fs
  • NP_075461.2:p.Lys1142fs
  • LRG_7:g.224816dup
  • NC_000019.9:g.13397458_13397459insG
  • NC_000019.9:g.13397465dup
  • NM_001127221.2:c.3414dupC
Protein change:
K1138fs
Links:
dbSNP: rs746790849
NCBI 1000 Genomes Browser:
rs746790849
Molecular consequence:
  • NM_000068.4:c.3423dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001127221.2:c.3414dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001127222.2:c.3411dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001174080.2:c.3414dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_023035.3:c.3423dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Episodic ataxia type 2 (EA2)
Synonyms:
Episodic ataxia with nystagmus; Nystagmus-associated episodic ataxia; Cerebellopathy, hereditary paroxysmal; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007163; MedGen: C1720416; Orphanet: 97; OMIM: 108500

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001774430Research Unit of Clinical Neuroscience, Medical Research Center Oulu, University of Oulu
no assertion criteria provided
Likely pathogenic
(Jul 6, 2021) 		germlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Finnishgermlineyes1not providednot providednot providednot providedresearch

Details of each submission

From Research Unit of Clinical Neuroscience, Medical Research Center Oulu, University of Oulu, SCV001774430.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Finnish1not providednot providedresearchnot provided

Description

The variant was found in a patient with dominantly inherited ataxia. The mutation causes a frameshift and early termination of the protein suggesting pathogenicity. However, functional studies and segregation analyses are required to confirm the pathogenicity of the variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 15, 2024