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NM_001232.4(CASQ2):c.1052A>G (p.Asp351Gly) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 6, 2023
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:
RCV003165354.9

Allele description [Variation Report for NM_001232.4(CASQ2):c.1052A>G (p.Asp351Gly)]

NM_001232.4(CASQ2):c.1052A>G (p.Asp351Gly)

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.1052A>G (p.Asp351Gly)
HGVS:
  • NC_000001.11:g.115701389T>C
  • NG_008802.1:g.72417A>G
  • NM_001232.4:c.1052A>GMANE SELECT
  • NP_001223.2:p.Asp351Gly
  • NP_001223.2:p.Asp351Gly
  • LRG_404t1:c.1052A>G
  • LRG_404:g.72417A>G
  • LRG_404p1:p.Asp351Gly
  • NC_000001.10:g.116244010T>C
  • NM_001232.3:c.1052A>G
Protein change:
D351G
Links:
dbSNP: rs200899037
NCBI 1000 Genomes Browser:
rs200899037
Molecular consequence:
  • NM_001232.4:c.1052A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV003866677Ambry Genetics
    criteria provided, single submitter

    (Ambry Variant Classification Scheme 2023)    		Uncertain significance
    (Jan 6, 2023)     		germlineclinical testing

    PubMed (5)
    [See all records that cite these PMIDs]

    Citation Link

    Help

    Summary from all submissions

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

    Citations

    PubMed

    Interpreting secondary cardiac disease variants in an exome cohort.

    Ng D, Johnston JJ, Teer JK, Singh LN, Peller LC, Wynter JS, Lewis KL, Cooper DN, Stenson PD, Mullikin JC, Biesecker LG; NIH Intramural Sequencing Center (NISC) Comparative Sequencing Program..

    Circ Cardiovasc Genet. 2013 Aug;6(4):337-46. doi: 10.1161/CIRCGENETICS.113.000039. Epub 2013 Jul 16.

    PubMed [citation]
    PMID:
    23861362
    PMCID:
    PMC3887521

    Post-mortem whole-exome analysis in a large sudden infant death syndrome cohort with a focus on cardiovascular and metabolic genetic diseases.

    Neubauer J, Lecca MR, Russo G, Bartsch C, Medeiros-Domingo A, Berger W, Haas C.

    Eur J Hum Genet. 2017 Apr;25(4):404-409. doi: 10.1038/ejhg.2016.199. Epub 2017 Jan 11.

    PubMed [citation]
    PMID:
    28074886
    PMCID:
    PMC5386419
    See all PubMed Citations (5)

    Details of each submission

    From Ambry Genetics, SCV003866677.2

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedclinical testing PubMed (5)

    Description

    The p.D351G variant (also known as c.1052A>G), located in coding exon 11 of the CASQ2 gene, results from an A to G substitution at nucleotide position 1052. The aspartic acid at codon 351 is replaced by glycine, an amino acid with similar properties. This variant has been detected in two cases from a sudden infant death cohort and in a case with idiopathic ventricular fibrillation (Neubauer J et al. Eur J Hum Genet, 2017 Apr;25:404-409; Leinonen JT et al. Int J Cardiol, 2018 Jan;250:139-145). This variant has also been detected in exome sequencing cohorts; however, clinical details were limited (Ng D et al. Circ Cardiovasc Genet, 2013 Aug;6:337-46; Landstrom AP et al. Circ Arrhythm Electrophysiol, 2017 Apr;10). Analyses by one group suggest this variant may not significantly impact certain aspects of protein folding and function (Wang Q et al. Sci Rep, 2020 Oct;10:18115). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive.

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

    Last Updated: Nov 3, 2024