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NM_000719.7(CACNA1C):c.5593G>A (p.Glu1865Lys) AND Brugada syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 11, 2015
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:
RCV000211440.11

Allele description [Variation Report for NM_000719.7(CACNA1C):c.5593G>A (p.Glu1865Lys)]

NM_000719.7(CACNA1C):c.5593G>A (p.Glu1865Lys)

Genes:
CACNA1C-AS1:CACNA1C antisense RNA 1 [Gene - HGNC]
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.5593G>A (p.Glu1865Lys)
HGVS:
  • NC_000012.12:g.2685755G>A
  • NG_008801.2:g.719970G>A
  • NM_000719.7:c.5593G>AMANE SELECT
  • NM_001129827.2:c.5737G>A
  • NM_001129829.2:c.5716G>A
  • NM_001129830.3:c.5698G>A
  • NM_001129831.2:c.5677G>A
  • NM_001129832.2:c.5653G>A
  • NM_001129833.2:c.5650G>A
  • NM_001129834.2:c.5650G>A
  • NM_001129835.2:c.5650G>A
  • NM_001129836.2:c.5644G>A
  • NM_001129837.2:c.5617G>A
  • NM_001129838.2:c.5617G>A
  • NM_001129839.2:c.5611G>A
  • NM_001129840.2:c.5593G>A
  • NM_001129841.2:c.5593G>A
  • NM_001129842.2:c.5593G>A
  • NM_001129843.2:c.5593G>A
  • NM_001129844.2:c.5584G>A
  • NM_001129846.2:c.5560G>A
  • NM_001167623.2:c.5593G>A
  • NM_001167624.3:c.5698G>A
  • NM_001167625.2:c.5773G>A
  • NM_199460.4:c.5842G>A
  • NP_000710.5:p.Glu1865Lys
  • NP_001123299.1:p.Glu1913Lys
  • NP_001123301.1:p.Glu1906Lys
  • NP_001123301.1:p.Glu1906Lys
  • NP_001123302.2:p.Glu1900Lys
  • NP_001123303.1:p.Glu1893Lys
  • NP_001123303.1:p.Glu1893Lys
  • NP_001123304.1:p.Glu1885Lys
  • NP_001123304.1:p.Glu1885Lys
  • NP_001123305.1:p.Glu1884Lys
  • NP_001123305.1:p.Glu1884Lys
  • NP_001123306.1:p.Glu1884Lys
  • NP_001123306.1:p.Glu1884Lys
  • NP_001123307.1:p.Glu1884Lys
  • NP_001123307.1:p.Glu1884Lys
  • NP_001123308.1:p.Glu1882Lys
  • NP_001123308.1:p.Glu1882Lys
  • NP_001123309.1:p.Glu1873Lys
  • NP_001123309.1:p.Glu1873Lys
  • NP_001123310.1:p.Glu1873Lys
  • NP_001123310.1:p.Glu1873Lys
  • NP_001123311.1:p.Glu1871Lys
  • NP_001123311.1:p.Glu1871Lys
  • NP_001123312.1:p.Glu1865Lys
  • NP_001123313.1:p.Glu1865Lys
  • NP_001123313.1:p.Glu1865Lys
  • NP_001123314.1:p.Glu1865Lys
  • NP_001123314.1:p.Glu1865Lys
  • NP_001123315.1:p.Glu1865Lys
  • NP_001123315.1:p.Glu1865Lys
  • NP_001123316.1:p.Glu1862Lys
  • NP_001123316.1:p.Glu1862Lys
  • NP_001123318.1:p.Glu1854Lys
  • NP_001123318.1:p.Glu1854Lys
  • NP_001161095.1:p.Glu1865Lys
  • NP_001161096.2:p.Glu1900Lys
  • NP_001161097.1:p.Glu1925Lys
  • NP_001161097.1:p.Glu1925Lys
  • NP_955630.3:p.Glu1948Lys
  • LRG_334t1:c.5593G>A
  • LRG_334t2:c.5737G>A
  • LRG_334t3:c.5698G>A
  • LRG_334t4:c.5593G>A
  • LRG_334:g.719970G>A
  • NC_000012.11:g.2794921G>A
  • NM_000719.6:c.5593G>A
  • NM_001129827.1:c.5737G>A
  • NM_001129829.1:c.5716G>A
  • NM_001129830.1:c.5698G>A
  • NM_001129831.1:c.5677G>A
  • NM_001129832.1:c.5653G>A
  • NM_001129833.1:c.5650G>A
  • NM_001129834.1:c.5650G>A
  • NM_001129835.1:c.5650G>A
  • NM_001129836.1:c.5644G>A
  • NM_001129837.1:c.5617G>A
  • NM_001129838.1:c.5617G>A
  • NM_001129839.1:c.5611G>A
  • NM_001129840.1:c.5593G>A
  • NM_001129841.1:c.5593G>A
  • NM_001129842.1:c.5593G>A
  • NM_001129843.1:c.5593G>A
  • NM_001129844.1:c.5584G>A
  • NM_001129846.1:c.5560G>A
  • NM_001167623.1:c.5593G>A
  • NM_001167624.1:c.5698G>A
  • NM_001167625.1:c.5773G>A
  • NM_199460.2:c.5842G>A
Protein change:
E1854K
Links:
dbSNP: rs200231105
NCBI 1000 Genomes Browser:
rs200231105
Molecular consequence:
  • NM_000719.7:c.5593G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129827.2:c.5737G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129829.2:c.5716G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129830.3:c.5698G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129831.2:c.5677G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129832.2:c.5653G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129833.2:c.5650G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129834.2:c.5650G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129835.2:c.5650G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129836.2:c.5644G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129837.2:c.5617G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129838.2:c.5617G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129839.2:c.5611G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129840.2:c.5593G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129841.2:c.5593G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129842.2:c.5593G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129843.2:c.5593G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129844.2:c.5584G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129846.2:c.5560G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001167623.2:c.5593G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001167624.3:c.5698G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001167625.2:c.5773G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_199460.4:c.5842G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Brugada syndrome
Synonyms:
Sudden unexpected nocturnal death syndrome; Sudden unexplained nocturnal death syndrome; Sudden Unexplained Death Syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015263; MedGen: C1142166; OMIM: PS601144

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000212194CSER _CC_NCGL, University of Washington - CSER - NEXT Medicine variant annotation
criteria provided, single submitter

(Amendola et al. (Genome Res. 2015))		Uncertain significance
(Mar 11, 2015) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Actionable exomic incidental findings in 6503 participants: challenges of variant classification.

Amendola LM, Dorschner MO, Robertson PD, Salama JS, Hart R, Shirts BH, Murray ML, Tokita MJ, Gallego CJ, Kim DS, Bennett JT, Crosslin DR, Ranchalis J, Jones KL, Rosenthal EA, Jarvik ER, Itsara A, Turner EH, Herman DS, Schleit J, Burt A, Jamal SM, et al.

Genome Res. 2015 Mar;25(3):305-15. doi: 10.1101/gr.183483.114. Epub 2015 Jan 30.

PubMed [citation]
PMID:
25637381
PMCID:
PMC4352885

Details of each submission

From CSER _CC_NCGL, University of Washington - CSER - NEXT Medicine variant annotation, SCV000212194.1

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

Last Updated: Apr 15, 2024