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NM_001205293.3(CACNA1E):c.2104G>A (p.Ala702Thr) AND Inborn genetic diseases

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 7, 2017
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:
RCV000624563.4

Allele description [Variation Report for NM_001205293.3(CACNA1E):c.2104G>A (p.Ala702Thr)]

NM_001205293.3(CACNA1E):c.2104G>A (p.Ala702Thr)

Gene:
CACNA1E:calcium voltage-gated channel subunit alpha1 E [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q25.3
Genomic location:
Preferred name:
NM_001205293.3(CACNA1E):c.2104G>A (p.Ala702Thr)
HGVS:
  • NC_000001.11:g.181724499G>A
  • NG_050616.1:g.246189G>A
  • NM_000721.4:c.2104G>A
  • NM_001205293.3:c.2104G>AMANE SELECT
  • NM_001205294.2:c.2104G>A
  • NP_000712.2:p.Ala702Thr
  • NP_001192222.1:p.Ala702Thr
  • NP_001192223.1:p.Ala702Thr
  • NC_000001.10:g.181693635G>A
  • NM_000721.3:c.2104G>A
  • NM_001205293.1:c.2104G>A
  • NM_001205293.3:c.2104G>A
  • p.A702T
Protein change:
A702T; ALA702THR
Links:
OMIM: 601013.0003; dbSNP: rs12131800
NCBI 1000 Genomes Browser:
rs12131800
Molecular consequence:
  • NM_000721.4:c.2104G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001205293.3:c.2104G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001205294.2:c.2104G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

Recent activity

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000742095Ambry Genetics
criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))		Likely pathogenic
(Mar 7, 2017) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
African Americangermlineyes1not providednot provided1not providedclinical testing

Citations

PubMed

De novo mutations in epileptic encephalopathies.

Epi4K Consortium.; Epilepsy Phenome/Genome Project., Allen AS, Berkovic SF, Cossette P, Delanty N, Dlugos D, Eichler EE, Epstein MP, Glauser T, Goldstein DB, Han Y, Heinzen EL, Hitomi Y, Howell KB, Johnson MR, Kuzniecky R, Lowenstein DH, Lu YF, Madou MR, Marson AG, Mefford HC, et al.

Nature. 2013 Sep 12;501(7466):217-21. doi: 10.1038/nature12439. Epub 2013 Aug 11.

PubMed [citation]
PMID:
23934111
PMCID:
PMC3773011

The role of distal S6 hydrophobic residues in the voltage-dependent gating of CaV2.3 channels.

Raybaud A, Baspinar EE, Dionne F, Dodier Y, Sauvé R, Parent L.

J Biol Chem. 2007 Sep 21;282(38):27944-52. Epub 2007 Jul 27.

PubMed [citation]
PMID:
17660294

Details of each submission

From Ambry Genetics, SCV000742095.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1African American1not providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Mar 30, 2024