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NM_001127222.2(CACNA1A):c.6575C>T (p.Ser2192Leu) 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:
RCV003458453.3

Allele description [Variation Report for NM_001127222.2(CACNA1A):c.6575C>T (p.Ser2192Leu)]

NM_001127222.2(CACNA1A):c.6575C>T (p.Ser2192Leu)

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.6575C>T (p.Ser2192Leu)
HGVS:
  • NC_000019.10:g.13208961G>A
  • NG_011569.1:g.302500C>T
  • NM_000068.4:c.6593C>T
  • NM_001127221.2:c.6578C>T
  • NM_001127222.2:c.6575C>TMANE SELECT
  • NM_001174080.2:c.6584C>T
  • NM_023035.3:c.6593C>T
  • NP_000059.3:p.Ser2198Leu
  • NP_001120693.1:p.Ser2193Leu
  • NP_001120693.1:p.Ser2193Leu
  • NP_001120694.1:p.Ser2192Leu
  • NP_001167551.1:p.Ser2195Leu
  • NP_075461.2:p.Ser2198Leu
  • LRG_7t1:c.6578C>T
  • LRG_7:g.302500C>T
  • LRG_7p1:p.Ser2193Leu
  • NC_000019.9:g.13319775G>A
  • NM_001127221.1:c.6578C>T
Protein change:
S2192L
Links:
dbSNP: rs1325697290
NCBI 1000 Genomes Browser:
rs1325697290
Molecular consequence:
  • NM_000068.4:c.6593C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127221.2:c.6578C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127222.2:c.6575C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174080.2:c.6584C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_023035.3:c.6593C>T - 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:
Migraine, familial hemiplegic, 1
Synonyms:
Migraine, familial hemiplegic 1, with progressive cerebellar ataxia
Identifiers:
MONDO: MONDO:0020756; MedGen: C1832884; Orphanet: 569; OMIM: 141500

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004176871GenomeConnect - Brain Gene Registry
no classification provided
not providedunknown, maternalphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknown1not providednot provided1not providedphenotyping only
not providedmaternalunknown1not providednot provided1not providedphenotyping only

Details of each submission

From GenomeConnect - Brain Gene Registry, SCV004176871.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedphenotyping onlynot provided
2not provided1not providednot providedphenotyping onlynot provided

Description

Variant classified as Uncertain significance and reported on 04-10-2020 by GeneDx. This variant was also identified in the participant's parent. Phenotypic data from the proband has been submitted with this variant. Additional phenotypic information for family members might be available from GenomeConnect. 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
2maternalunknown1not providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024