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NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr) AND multiple conditions

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV002274954.2

Allele description [Variation Report for NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)]

NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)

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_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)
Other names:
p.A713T; p.Ala712Thr
HGVS:
  • NC_000019.10:g.13303584C>T
  • NG_011569.1:g.207877G>A
  • NM_000068.4:c.2137G>A
  • NM_001127221.2:c.2137G>A
  • NM_001127222.2:c.2134G>AMANE SELECT
  • NM_001174080.2:c.2137G>A
  • NM_023035.3:c.2137G>A
  • NP_000059.3:p.Ala713Thr
  • NP_001120693.1:p.Ala713Thr
  • NP_001120693.1:p.Ala713Thr
  • NP_001120694.1:p.Ala712Thr
  • NP_001167551.1:p.Ala713Thr
  • NP_075461.2:p.Ala713Thr
  • LRG_7t1:c.2137G>A
  • LRG_7:g.207877G>A
  • LRG_7p1:p.Ala713Thr
  • NC_000019.9:g.13414398C>T
  • NM_001127221.1:c.2137G>A
  • NM_001127222.2:c.2134G>A
  • NM_023035.2:c.2137G>A
Protein change:
A712T; ALA713THR
Links:
OMIM: 601011.0036
Molecular consequence:
  • NM_000068.4:c.2137G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127221.2:c.2137G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127222.2:c.2134G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174080.2:c.2137G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_023035.3:c.2137G>A - missense variant - [Sequence Ontology: SO:0001583]

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
Name:
Familial hemiplegic migraine
Identifiers:
MONDO: MONDO:0000700; MedGen: C0338484; OMIM: PS141500
Name:
Developmental and epileptic encephalopathy, 42 (DEE42)
Synonyms:
Epileptic encephalopathy, early infantile, 42
Identifiers:
MONDO: MONDO:0014917; MedGen: C4310716; OMIM: 617106

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002564396GenomeConnect - Brain Gene Registry
no classification provided
not providedde novophenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novounknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect - Brain Gene Registry, SCV002564396.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant interpreted as Likely pathogenic and reported on 08-12-2015 by lab or GTR ID 61756. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect does not attempt to reinterpret the variant. The IIDDRC-CTSA National Brain Gene Registry (BGR) is a study funded by the U.S. National Center for Advancing Translational Sciences (NCATS) and includes 13 Intellectual and Developmental Disability Research Center (IDDRC) institutions. The study is led by Principal Investigator John Constantino MD PhD from Washington University. The BGR is a data commons of gene variants paired with subject clinical information. This database helps scientists learn more about genetic changes and their impact on the brain and behavior. Participation in the Brain Gene Registry requires participation in GenomeConnect. More information about the Brain Gene Registry can be found on the study website - https://braingeneregistry.wustl.edu/.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novounknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024