U.S. flag

An official website of the United States government

NM_001232.4(CASQ2):c.481A>C (p.Ile161Leu) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 9, 2022
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:
RCV002336398.9

Allele description [Variation Report for NM_001232.4(CASQ2):c.481A>C (p.Ile161Leu)]

NM_001232.4(CASQ2):c.481A>C (p.Ile161Leu)

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.481A>C (p.Ile161Leu)
Other names:
p.I161L:ATT>CTT
HGVS:
  • NC_000001.11:g.115738275T>G
  • NG_008802.1:g.35531A>C
  • NM_001232.4:c.481A>CMANE SELECT
  • NP_001223.2:p.Ile161Leu
  • NP_001223.2:p.Ile161Leu
  • LRG_404t1:c.481A>C
  • LRG_404:g.35531A>C
  • LRG_404p1:p.Ile161Leu
  • NC_000001.10:g.116280896T>G
  • NM_001232.3:c.481A>C
Protein change:
I161L
Links:
dbSNP: rs146333579
NCBI 1000 Genomes Browser:
rs146333579
Molecular consequence:
  • NM_001232.4:c.481A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002635039Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 9, 2022) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Interpreting Incidentally Identified Variants in Genes Associated With Catecholaminergic Polymorphic Ventricular Tachycardia in a Large Cohort of Clinical Whole-Exome Genetic Test Referrals.

Landstrom AP, Dailey-Schwartz AL, Rosenfeld JA, Yang Y, McLean MJ, Miyake CY, Valdes SO, Fan Y, Allen HD, Penny DJ, Kim JJ.

Circ Arrhythm Electrophysiol. 2017 Apr;10(4). doi:pii: e004742. 10.1161/CIRCEP.116.004742.

PubMed [citation]
PMID:
28404607
PMCID:
PMC5391872

Details of each submission

From Ambry Genetics, SCV002635039.2

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

Description

The p.I161L variant (also known as c.481A>C), located in coding exon 4 of the CASQ2 gene, results from an A to C substitution at nucleotide position 481. The isoleucine at codon 161 is replaced by leucine, an amino acid with highly similar properties. This alteration has been reported in a whole exome sequencing cohort; however, clinical details were limited (Landstrom AP et al. Circ Arrhythm Electrophysiol, 2017 Apr;10:[ePub ahead of print]). This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. 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