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NM_001232.4(CASQ2):c.482T>C (p.Ile161Thr) AND Catecholaminergic polymorphic ventricular tachycardia 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 28, 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:
RCV002548585.8

Allele description [Variation Report for NM_001232.4(CASQ2):c.482T>C (p.Ile161Thr)]

NM_001232.4(CASQ2):c.482T>C (p.Ile161Thr)

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.482T>C (p.Ile161Thr)
HGVS:
  • NC_000001.11:g.115738274A>G
  • NG_008802.1:g.35532T>C
  • NM_001232.4:c.482T>CMANE SELECT
  • NP_001223.2:p.Ile161Thr
  • LRG_404t1:c.482T>C
  • LRG_404:g.35532T>C
  • NC_000001.10:g.116280895A>G
  • NM_001232.3:c.482T>C
  • NM_001232.4:c.482T>C
Protein change:
I161T
Links:
dbSNP: rs151201435
NCBI 1000 Genomes Browser:
rs151201435
Molecular consequence:
  • NM_001232.4:c.482T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Catecholaminergic polymorphic ventricular tachycardia 1
Synonyms:
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; Stress-induced polymorphic ventricular tachycardia; VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC 1
Identifiers:
MONDO: MONDO:0011484; MedGen: C1631597; Orphanet: 3286; OMIM: 604772

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001563264Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Aug 28, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001563264.3

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

Description

This sequence change replaces isoleucine with threonine at codon 161 of the CASQ2 protein (p.Ile161Thr). The isoleucine residue is moderately conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is present in population databases (rs151201435, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with CASQ2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Jun 9, 2024