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NM_001232.4(CASQ2):c.730C>T (p.His244Tyr) AND Catecholaminergic polymorphic ventricular tachycardia 2

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 16, 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:
RCV001001284.16

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:
Catecholaminergic polymorphic ventricular tachycardia 2
Synonyms:
VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC 2
Identifiers:
MONDO: MONDO:0012762; MedGen: C2677794; Orphanet: 3286; OMIM: 611938

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001158463ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)		Uncertain significance
(Oct 16, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001158463.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The CASQ2 c.730_731delinsTG; p.His244Cys variant, to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 228471). This variant consists of two single nucleotide variants, c.730C>T (rs142036299) and c.731A>G (rs28730716), in adjacent nucleotides on the same chromosome. The individual variants, c.730C>T and c.731A>G, are found in the African population with overall allele frequencies of 0.23% (54/23932 alleles) and 8.3% (1990/23868 alleles), respectively, in the Genome Aggregation Database, and available data indicates that c.730C>T may always occur with c.731A>G. The histidine at codon 244 is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. However, given the lack of clinical and functional data, the significance of the p.His244Cys variant is uncertain at this time.

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

Last Updated: Sep 29, 2024