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NM_001127222.2(CACNA1A):c.7266_7271del (p.Ser2423_Gly2424del) AND multiple conditions

Germline classification:
Uncertain significance (2 submissions)
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV003227847.5

Allele description [Variation Report for NM_001127222.2(CACNA1A):c.7266_7271del (p.Ser2423_Gly2424del)]

NM_001127222.2(CACNA1A):c.7266_7271del (p.Ser2423_Gly2424del)

Gene:
CACNA1A:calcium voltage-gated channel subunit alpha1 A [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
19p13.13
Genomic location:
Preferred name:
NM_001127222.2(CACNA1A):c.7266_7271del (p.Ser2423_Gly2424del)
HGVS:
  • NC_000019.10:g.13207565_13207570del
  • NG_011569.1:g.303893_303898del
  • NM_000068.4:c.*478_*483del
  • NM_001127221.1:c.*478_*483delCAGCGG
  • NM_001127221.2:c.*478_*483del
  • NM_001127222.2:c.7266_7271delMANE SELECT
  • NM_001174080.2:c.*478_*483del
  • NM_023035.3:c.7284_7289del
  • NP_001120694.1:p.Ser2423_Gly2424del
  • NP_075461.2:p.Ser2429_Gly2430del
  • LRG_7t1:c.*478_*483del
  • LRG_7:g.303893_303898del
  • NC_000019.9:g.13318377_13318382delCCGCTG
  • NC_000019.9:g.13318379_13318384del
  • NM_001127222.1:c.7266_7271del6
  • NM_001127222.2:c.7266_7271del
  • NM_023035.2:c.7284_7289delCAGCGG
Links:
dbSNP: rs775428832
Molecular consequence:
  • NM_000068.4:c.*478_*483del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001127221.2:c.*478_*483del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001174080.2:c.*478_*483del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001127222.2:c.7266_7271del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_023035.3:c.7284_7289del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
Episodic ataxia type 2 (EA2)
Synonyms:
ACETAZOLAMIDE-RESPONSIVE HEREDITARY PAROXYSMAL CEREBELLAR ATAXIA; ATAXIA, EPISODIC, WITH NYSTAGMUS; ATAXIA, FAMILIAL PAROXYSMAL; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007163; MedGen: C1720416; Orphanet: 97; OMIM: 108500
Name:
Spinocerebellar ataxia type 6 (SCA6)
Identifiers:
MONDO: MONDO:0008457; MedGen: C0752124; Orphanet: 98758; OMIM: 183086
Name:
Migraine, familial hemiplegic, 1
Synonyms:
MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA
Identifiers:
MONDO: MONDO:0020756; MedGen: C1832884; Orphanet: 569; OMIM: 141500
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
SCV003924185Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significancegermlineclinical testing

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

SCV004804630GenomeConnect - Brain Gene Registry
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedunknownunknown1not providednot provided1not providedphenotyping only

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago, SCV003924185.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

CACNA1A NM_001127222.1 exon 47 p.Ser2423_Gly2424del (c.7266_7271del): This variant has not been reported in the literature but is present in 0.2% (45/17222) of Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs775428832). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant represents an in-frame deletion of 2 amino acids at position 2423/2424 and is not predicted to alter the reading frame. However, the effect of this variant on the protein is unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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

From GenomeConnect - Brain Gene Registry, SCV004804630.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedphenotyping onlynot provided

Description

Variant classified as Uncertain significance and reported on 05-13-2021 by Vanderbilt University Medical Center. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect does not attempt to reinterpret the variant. The IDDRC-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 Dr. Philip Payne 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
1unknownunknown1not providednot provided1not providednot providednot provided

Last Updated: Jul 27, 2026

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