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NM_000719.7(CACNA1C):c.116C>T (p.Ala39Val) AND Brugada syndrome 3

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Jan 30, 2007
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV000019202.39

Allele description [Variation Report for NM_000719.7(CACNA1C):c.116C>T (p.Ala39Val)]

NM_000719.7(CACNA1C):c.116C>T (p.Ala39Val)

Gene:
CACNA1C:calcium voltage-gated channel subunit alpha1 C [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12p13.33
Genomic location:
Preferred name:
NM_000719.7(CACNA1C):c.116C>T (p.Ala39Val)
HGVS:
  • NC_000012.12:g.2115290C>T
  • NG_008801.2:g.149505C>T
  • NM_000719.7:c.116C>TMANE SELECT
  • NM_001129827.2:c.116C>T
  • NM_001129829.2:c.116C>T
  • NM_001129830.3:c.116C>T
  • NM_001129831.2:c.116C>T
  • NM_001129832.2:c.116C>T
  • NM_001129833.2:c.116C>T
  • NM_001129834.2:c.116C>T
  • NM_001129835.2:c.116C>T
  • NM_001129836.2:c.116C>T
  • NM_001129837.2:c.116C>T
  • NM_001129838.2:c.116C>T
  • NM_001129839.2:c.116C>T
  • NM_001129840.2:c.116C>T
  • NM_001129841.2:c.116C>T
  • NM_001129842.2:c.116C>T
  • NM_001129843.2:c.116C>T
  • NM_001129844.2:c.116C>T
  • NM_001129846.2:c.116C>T
  • NM_001167623.2:c.116C>T
  • NM_001167624.3:c.116C>T
  • NM_001167625.2:c.116C>T
  • NM_199460.4:c.116C>T
  • NP_000710.5:p.Ala39Val
  • NP_001123299.1:p.Ala39Val
  • NP_001123301.1:p.Ala39Val
  • NP_001123302.2:p.Ala39Val
  • NP_001123303.1:p.Ala39Val
  • NP_001123304.1:p.Ala39Val
  • NP_001123305.1:p.Ala39Val
  • NP_001123306.1:p.Ala39Val
  • NP_001123307.1:p.Ala39Val
  • NP_001123308.1:p.Ala39Val
  • NP_001123309.1:p.Ala39Val
  • NP_001123310.1:p.Ala39Val
  • NP_001123311.1:p.Ala39Val
  • NP_001123312.1:p.Ala39Val
  • NP_001123313.1:p.Ala39Val
  • NP_001123314.1:p.Ala39Val
  • NP_001123315.1:p.Ala39Val
  • NP_001123316.1:p.Ala39Val
  • NP_001123318.1:p.Ala39Val
  • NP_001161095.1:p.Ala39Val
  • NP_001161096.2:p.Ala39Val
  • NP_001161097.1:p.Ala39Val
  • NP_955630.3:p.Ala39Val
  • LRG_334t1:c.116C>T
  • LRG_334:g.149505C>T
  • NC_000012.11:g.2224456C>T
  • NM_000719.6:c.116C>T
Protein change:
A39V; ALA39VAL
Links:
OMIM: 114205.0004; dbSNP: rs121912776
NCBI 1000 Genomes Browser:
rs121912776
Molecular consequence:
  • NM_000719.7:c.116C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129827.2:c.116C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129829.2:c.116C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129830.3:c.116C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129831.2:c.116C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129832.2:c.116C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129833.2:c.116C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129834.2:c.116C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129835.2:c.116C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129836.2:c.116C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129837.2:c.116C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129838.2:c.116C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129839.2:c.116C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129840.2:c.116C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129841.2:c.116C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129842.2:c.116C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129843.2:c.116C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129844.2:c.116C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129846.2:c.116C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001167623.2:c.116C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001167624.3:c.116C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001167625.2:c.116C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_199460.4:c.116C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Brugada syndrome 3 (BRGDA3)
Identifiers:
MONDO: MONDO:0012742; MedGen: C2678478; Orphanet: 130; OMIM: 611875

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000039490OMIM
no assertion criteria provided
Pathogenic
(Jan 30, 2007) 		germlineliterature only

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

SCV000188928GeneReviews
no classification provided
not providedgermlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death.

Antzelevitch C, Pollevick GD, Cordeiro JM, Casis O, Sanguinetti MC, Aizawa Y, Guerchicoff A, Pfeiffer R, Oliva A, Wollnik B, Gelber P, Bonaros EP Jr, Burashnikov E, Wu Y, Sargent JD, Schickel S, Oberheiden R, Bhatia A, Hsu LF, Haïssaguerre M, Schimpf R, Borggrefe M, et al.

Circulation. 2007 Jan 30;115(4):442-9. Epub 2007 Jan 15.

PubMed [citation]
PMID:
17224476
PMCID:
PMC1952683

Details of each submission

From OMIM, SCV000039490.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 44-year-old white male of European descent with Brugada syndrome and a shortened QTc interval (BRGDA3; 611875), Antzelevitch et al. (2007) identified a heterozygous 116C-T transition in exon 2 of the CACNA1C gene, predicted to result in an ala39-to-val (A39V) substitution near the N terminus within a highly conserved region of the protein. The mutation was not found in 404 ethnically matched control alleles. Patch-clamp experiments in CHO cells demonstrated a marked reduction in current amplitude of mutant channels compared to wildtype, although voltage at peak current was unchanged; confocal microscopy revealed a defect in trafficking of A39V CaV1.2 channels.

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

From GeneReviews, SCV000188928.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024