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NM_001743.6(CALM2):c.248A>G (p.Glu83Gly) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 12, 2024
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:
RCV004600608.1

Allele description [Variation Report for NM_001743.6(CALM2):c.248A>G (p.Glu83Gly)]

NM_001743.6(CALM2):c.248A>G (p.Glu83Gly)

Gene:
CALM2:calmodulin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p21
Genomic location:
Preferred name:
NM_001743.6(CALM2):c.248A>G (p.Glu83Gly)
HGVS:
  • NC_000002.12:g.47162323T>C
  • NG_042065.1:g.19614A>G
  • NM_001305624.1:c.392A>G
  • NM_001305625.2:c.140A>G
  • NM_001305626.1:c.140A>G
  • NM_001743.6:c.248A>GMANE SELECT
  • NP_001292553.1:p.Glu131Gly
  • NP_001292554.1:p.Glu47Gly
  • NP_001292555.1:p.Glu47Gly
  • NP_001734.1:p.Glu83Gly
  • NC_000002.11:g.47389462T>C
  • NM_001743.4:c.248A>G
Protein change:
E131G
Molecular consequence:
  • NM_001305624.1:c.392A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001305625.2:c.140A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001305626.1:c.140A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001743.6:c.248A>G - 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
SCV005094870Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 12, 2024) 		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

Life-threatening cardiac arrhythmia and sudden death during electronic gaming: An international case series and systematic review.

Lawley CM, Tester M, Sanatani S, Prendiville T, Beach CM, Vinocur JM, Horie M, Uhm JS, Khongphatthanayothin A, Ayers MD, Starling L, Yoshida Y, Shah MJ, Skinner JR, Turner C.

Heart Rhythm. 2022 Nov;19(11):1826-1833. doi: 10.1016/j.hrthm.2022.08.003. Epub 2022 Oct 11.

PubMed [citation]
PMID:
37850595

Details of each submission

From Ambry Genetics, SCV005094870.1

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

Description

The p.E83G variant (also known as c.248A>G), located in coding exon 4 of the CALM2 gene, results from an A to G substitution at nucleotide position 248. The glutamic acid at codon 83 is replaced by glycine, an amino acid with similar properties. This alteration has been reported in a pediatric cardiac arrhythmia cohort (Lawley CM et al. Heart Rhythm, 2022 Nov;19:1826-1833). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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

Last Updated: Aug 11, 2024