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

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 14, 2023
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:
RCV003492089.1

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, 42 (DEE42)
Synonyms:
Epileptic encephalopathy, early infantile, 42
Identifiers:
MONDO: MONDO:0014917; MedGen: C4310716; OMIM: 617106

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004232712HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - UCC-HudsonAlpha
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(Dec 14, 2023)
unknownresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot provided1not providedresearch

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 HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - UCC-HudsonAlpha, SCV004232712.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1not providednot provided1not providednot providednot provided

Last Updated: Mar 5, 2024