NM_000719.7(CACNA1C):c.200G>A (p.Ser67Asn) AND Brugada syndrome 3

Clinical significance:Uncertain significance (Last evaluated: Aug 28, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001332565.1

Allele description [Variation Report for NM_000719.7(CACNA1C):c.200G>A (p.Ser67Asn)]

NM_000719.7(CACNA1C):c.200G>A (p.Ser67Asn)

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.200G>A (p.Ser67Asn)
HGVS:
  • NC_000012.12:g.2115374G>A
  • NG_008801.2:g.149589G>A
  • NM_000719.7:c.200G>AMANE SELECT
  • NM_001129827.2:c.200G>A
  • NM_001129829.1:c.200G>A
  • NM_001129830.3:c.200G>A
  • NM_001129831.1:c.200G>A
  • NM_001129832.1:c.200G>A
  • NM_001129833.1:c.200G>A
  • NM_001129834.1:c.200G>A
  • NM_001129835.1:c.200G>A
  • NM_001129836.1:c.200G>A
  • NM_001129837.1:c.200G>A
  • NM_001129838.1:c.200G>A
  • NM_001129839.1:c.200G>A
  • NM_001129840.2:c.200G>A
  • NM_001129841.1:c.200G>A
  • NM_001129842.1:c.200G>A
  • NM_001129843.1:c.200G>A
  • NM_001129844.1:c.200G>A
  • NM_001129846.1:c.200G>A
  • NM_001167623.2:c.200G>A
  • NM_001167624.2:c.200G>A
  • NM_001167625.1:c.200G>A
  • NM_199460.3:c.200G>A
  • NP_000710.5:p.Ser67Asn
  • NP_001123299.1:p.Ser67Asn
  • NP_001123301.1:p.Ser67Asn
  • NP_001123302.2:p.Ser67Asn
  • NP_001123303.1:p.Ser67Asn
  • NP_001123304.1:p.Ser67Asn
  • NP_001123305.1:p.Ser67Asn
  • NP_001123306.1:p.Ser67Asn
  • NP_001123307.1:p.Ser67Asn
  • NP_001123308.1:p.Ser67Asn
  • NP_001123309.1:p.Ser67Asn
  • NP_001123310.1:p.Ser67Asn
  • NP_001123311.1:p.Ser67Asn
  • NP_001123312.1:p.Ser67Asn
  • NP_001123313.1:p.Ser67Asn
  • NP_001123314.1:p.Ser67Asn
  • NP_001123315.1:p.Ser67Asn
  • NP_001123316.1:p.Ser67Asn
  • NP_001123318.1:p.Ser67Asn
  • NP_001161095.1:p.Ser67Asn
  • NP_001161096.2:p.Ser67Asn
  • NP_001161097.1:p.Ser67Asn
  • NP_955630.3:p.Ser67Asn
  • LRG_334t1:c.200G>A
  • LRG_334:g.149589G>A
  • NC_000012.11:g.2224540G>A
  • NM_000719.6:c.200G>A
Protein change:
S67N
Molecular consequence:
  • NM_000719.7:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129827.2:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129829.1:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129830.3:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129831.1:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129832.1:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129833.1:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129834.1:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129835.1:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129836.1:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129837.1:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129838.1:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129839.1:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129840.2:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129841.1:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129842.1:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129843.1:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129844.1:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129846.1:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001167623.2:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001167624.2:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001167625.1:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_199460.3:c.200G>A - 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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001524935Baylor Geneticscriteria provided, single submitter
Uncertain significance
(Aug 28, 2019)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot 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 Baylor Genetics, SCV001524935.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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

Last Updated: Oct 7, 2021

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