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NM_001232.4(CASQ2):c.730C>T (p.His244Tyr) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 13, 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:
RCV000249385.13

Allele description [Variation Report for NM_001232.4(CASQ2):c.730C>T (p.His244Tyr)]

NM_001232.4(CASQ2):c.730C>T (p.His244Tyr)

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.730C>T (p.His244Tyr)
HGVS:
  • NC_000001.11:g.115726999G>A
  • NG_008802.1:g.46807C>T
  • NM_001232.4:c.730C>TMANE SELECT
  • NP_001223.2:p.His244Tyr
  • NP_001223.2:p.His244Tyr
  • LRG_404t1:c.730C>T
  • LRG_404:g.46807C>T
  • LRG_404p1:p.His244Tyr
  • NC_000001.10:g.116269620G>A
  • NM_001232.3:c.730C>T
Protein change:
H244Y
Links:
dbSNP: rs142036299
NCBI 1000 Genomes Browser:
rs142036299
Molecular consequence:
  • NM_001232.4:c.730C>T - 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
SCV000319978Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 13, 2021) 		germlineclinical testing

PubMed (3)
[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

The importance of genetic counseling, DNA diagnostics, and cardiologic family screening in left ventricular noncompaction cardiomyopathy.

Hoedemaekers YM, Caliskan K, Michels M, Frohn-Mulder I, van der Smagt JJ, Phefferkorn JE, Wessels MW, ten Cate FJ, Sijbrands EJ, Dooijes D, Majoor-Krakauer DF.

Circ Cardiovasc Genet. 2010 Jun;3(3):232-9. doi: 10.1161/CIRCGENETICS.109.903898. Epub 2010 Jun 8.

PubMed [citation]
PMID:
20530761

Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.

Sanchez O, Campuzano O, Fernández-Falgueras A, Sarquella-Brugada G, Cesar S, Mademont I, Mates J, Pérez-Serra A, Coll M, Pico F, Iglesias A, Tirón C, Allegue C, Carro E, Gallego MÁ, Ferrer-Costa C, Hospital A, Bardalet N, Borondo JC, Vingut A, Arbelo E, Brugada J, et al.

PLoS One. 2016;11(12):e0167358. doi: 10.1371/journal.pone.0167358. Erratum in: PLoS One. 2017 Feb 6;12(2):e0171893. doi: 10.1371/journal.pone.0171893.

PubMed [citation]
PMID:
27930701
PMCID:
PMC5145162
See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV000319978.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

The p.H244Y variant (also known as c.730C>T), located in coding exon 6 of the CASQ2 gene, results from a C to T substitution at nucleotide position 730. The histidine at codon 244 is replaced by tyrosine, an amino acid with some similar properties. This alteration has been reported in a proband with left ventricular non-compaction (LVNC) who also carried alterations in other cardiac-related genes (Hoedemaekers YM et al. Circ Cardiovasc Genet, 2010 Jun;3:232-9). This variant has also been reported in a sudden unexplained death cohort and a catecholaminergic polymorphic ventricular tachycardia (CPVT) cohort; however, clinical details were limited (Sanchez O et al. PLoS ONE, 2016 Dec;11:e0167358; Landstrom AP et al. Circ Arrhythm Electrophysiol, 2017 Apr;10:). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. 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: Sep 29, 2024