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NM_001743.6(CALM2):c.293A>G (p.Asn98Ser)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Jul 19, 2020
Accession:
VCV000096720.3
Variation ID:
96720
Description:
single nucleotide variant
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NM_001743.6(CALM2):c.293A>G (p.Asn98Ser)

Allele ID
102607
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p21
Genomic location
2: 47161851 (GRCh38) GRCh38 UCSC
2: 47388990 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
P62158:p.Asn98Ser
NC_000002.11:g.47388990T>C
NC_000002.12:g.47161851T>C
... more HGVS
Protein change
N98S, N62S, N146S
Other names
-
Canonical SPDI
NC_000002.12:47161850:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA186025
UniProtKB: P62158#VAR_069223
OMIM: 114182.0003
dbSNP: rs398124647
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Jul 19, 2020 RCV001388081.1
Pathogenic 1 no assertion criteria provided Aug 1, 2014 RCV000162067.4
Likely pathogenic 1 no assertion criteria provided - RCV000143836.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CALM2 - - GRCh38
GRCh37
78 99

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jul 19, 2020)
criteria provided, single submitter
Method: clinical testing
Long QT syndrome 1
Allele origin: germline
Invitae
Accession: SCV001588928.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (6)
Comment:
This sequence change replaces asparagine with serine at codon 98 of the CALM2 protein (p.Asn98Ser). The asparagine residue is highly conserved and there is a … (more)
probable-pathogenic
(-)
no assertion criteria provided
Method: not provided
not provided
Allele origin: germline
George Lab Vanderbilt University
Accession: SCV000114924.1
Submitted: (Jan 28, 2014)
Evidence details
Comment:
Converted during submission to Likely pathogenic.
Pathogenic
(Aug 01, 2014)
no assertion criteria provided
Method: literature only
LONG QT SYNDROME 15
Allele origin: germline
OMIM
Accession: SCV000212100.3
Submitted: (Mar 02, 2015)
Evidence details
Publications
PubMed (2)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Long QT syndrome with a de novo CALM2 mutation in a 4-year-old boy. Fujita S Pediatrics international : official journal of the Japan Pediatric Society 2019 PMID: 31283864
Allele-specific ablation rescues electrophysiological abnormalities in a human iPS cell model of long-QT syndrome with a CALM2 mutation. Yamamoto Y Human molecular genetics 2017 PMID: 28335032
Novel CPVT-Associated Calmodulin Mutation in CALM3 (CALM3-A103V) Activates Arrhythmogenic Ca Waves and Sparks. Gomez-Hurtado N Circulation. Arrhythmia and electrophysiology 2016 PMID: 27516456
Arrhythmogenic calmodulin mutations impede activation of small-conductance calcium-activated potassium current. Yu CC Heart rhythm 2016 PMID: 27165696
Whole-Exome Molecular Autopsy After Exertion-Related Sudden Unexplained Death in the Young. Anderson JH Circulation. Cardiovascular genetics 2016 PMID: 27114410
Calmodulin 2 Mutation N98S Is Associated with Unexplained Cardiac Arrest in Infants Due to Low Clinical Penetrance Electrical Disorders. Jiménez-Jáimez J PloS one 2016 PMID: 27100291
Novel calmodulin mutations associated with congenital arrhythmia susceptibility. Makita N Circulation. Cardiovascular genetics 2014 PMID: 24917665

Text-mined citations for rs398124647...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 08, 2021