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NM_001232.4(CASQ2):c.1196A>C (p.Glu399Ala) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 4, 2021
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:
RCV002338586.2

Allele description [Variation Report for NM_001232.4(CASQ2):c.1196A>C (p.Glu399Ala)]

NM_001232.4(CASQ2):c.1196A>C (p.Glu399Ala)

Gene:
CASQ2:calsequestrin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p13.1
Genomic location:
Preferred name:
NM_001232.4(CASQ2):c.1196A>C (p.Glu399Ala)
HGVS:
  • NC_000001.11:g.115701245T>G
  • NG_008802.1:g.72561A>C
  • NM_001232.4:c.1196A>CMANE SELECT
  • NP_001223.2:p.Glu399Ala
  • NP_001223.2:p.Glu399Ala
  • LRG_404t1:c.1196A>C
  • LRG_404:g.72561A>C
  • LRG_404p1:p.Glu399Ala
  • NC_000001.10:g.116243866T>G
  • NM_001232.3:c.1196A>C
Protein change:
E399A
Molecular consequence:
  • NM_001232.4:c.1196A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002641558Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 4, 2021) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Interpreting Incidentally Identified Variants in Genes Associated With Catecholaminergic Polymorphic Ventricular Tachycardia in a Large Cohort of Clinical Whole-Exome Genetic Test Referrals.

Landstrom AP, Dailey-Schwartz AL, Rosenfeld JA, Yang Y, McLean MJ, Miyake CY, Valdes SO, Fan Y, Allen HD, Penny DJ, Kim JJ.

Circ Arrhythm Electrophysiol. 2017 Apr;10(4). doi: 10.1161/CIRCEP.116.004742.

PubMed [citation]
PMID:
28404607
PMCID:
PMC5391872

Details of each submission

From Ambry Genetics, SCV002641558.2

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

Description

The p.E399A variant (also known as c.1196A>C), located in coding exon 11 of the CASQ2 gene, results from an A to C substitution at nucleotide position 1196. The glutamic acid at codon 399 is replaced by alanine, an amino acid with dissimilar properties. This alteration has been reported in a catecholaminergic polymorphic ventricular tachycardia (CPVT) whole exome sequencing cohort; however, clinical details were limited (Landstrom AP et al. Circ Arrhythm Electrophysiol, 2017 Apr;10:). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024