U.S. flag

An official website of the United States government

NM_001127222.2(CACNA1A):c.2133C>G (p.Ile711Met) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 20, 2022
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:
RCV002227178.1

Allele description [Variation Report for NM_001127222.2(CACNA1A):c.2133C>G (p.Ile711Met)]

NM_001127222.2(CACNA1A):c.2133C>G (p.Ile711Met)

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.2133C>G (p.Ile711Met)
HGVS:
  • NC_000019.10:g.13303585G>C
  • NG_011569.1:g.207876C>G
  • NM_000068.4:c.2136C>G
  • NM_001127221.2:c.2136C>G
  • NM_001127222.1:c.2133C>G
  • NM_001127222.2:c.2133C>GMANE SELECT
  • NM_001174080.2:c.2136C>G
  • NM_023035.3:c.2136C>G
  • NP_000059.3:p.Ile712Met
  • NP_001120693.1:p.Ile712Met
  • NP_001120693.1:p.Ile712Met
  • NP_001120694.1:p.Ile711Met
  • NP_001167551.1:p.Ile712Met
  • NP_075461.2:p.Ile712Met
  • LRG_7t1:c.2136C>G
  • LRG_7:g.207876C>G
  • LRG_7p1:p.Ile712Met
  • NC_000019.9:g.13414399G>C
  • NM_001127221.1:c.2136C>G
Protein change:
I711M
Links:
dbSNP: rs764839814
NCBI 1000 Genomes Browser:
rs764839814
Molecular consequence:
  • NM_000068.4:c.2136C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127221.2:c.2136C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127222.2:c.2133C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174080.2:c.2136C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_023035.3:c.2136C>G - 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:
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, 52 (DEE52)
Synonyms:
Epileptic encephalopathy, early infantile, 52
Identifiers:
MONDO: MONDO:0033361; MedGen: C4479236; OMIM: 617350

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002506539Wendy Chung Laboratory, Columbia University Medical Center
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(Mar 20, 2022)
de novoclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedclinical testing

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 Wendy Chung Laboratory, Columbia University Medical Center, SCV002506539.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 5, 2024