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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003866677	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jan 6, 2023)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 23861362, 28074886, 28404607, 29032884, 33093545 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003866677

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jan 6, 2023)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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