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NM_001743.6(CALM2):c.396T>G (p.Asp132Glu)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
3 (Most recent: Jan 21, 2020)
Last evaluated:
Aug 20, 2018
Accession:
VCV000096722.3
Variation ID:
96722
Description:
single nucleotide variant
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NM_001743.6(CALM2):c.396T>G (p.Asp132Glu)

Allele ID
102609
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p21
Genomic location
2: 47161748 (GRCh38) GRCh38 UCSC
2: 47388887 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.47388887A>C
NC_000002.12:g.47161748A>C
NG_042065.1:g.20189T>G
... more HGVS
Protein change
D132E, D96E, D180E
Other names
-
Canonical SPDI
NC_000002.12:47161747:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA186030
UniProtKB: P62158#VAR_073279
OMIM: 114182.0005
dbSNP: rs398124648
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, single submitter Aug 20, 2018 RCV000162069.5
Likely pathogenic 1 no assertion criteria provided - RCV000143838.1
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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
(Aug 20, 2018)
criteria provided, single submitter
Method: clinical testing
Long QT syndrome 15
(Autosomal dominant inheritance)
Allele origin: de novo
Institute of Human Genetics, Klinikum rechts der Isar
Accession: SCV001150036.1
Submitted: (Jan 21, 2020)
Evidence details
probable-pathogenic
(-)
no assertion criteria provided
Method: not provided
not provided
Allele origin: germline
George Lab Vanderbilt University
Accession: SCV000114926.1
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: SCV000212102.2
Submitted: (Mar 02, 2015)
Evidence details
Publications
PubMed (1)

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
Novel calmodulin mutations associated with congenital arrhythmia susceptibility. Makita N Circulation. Cardiovascular genetics 2014 PMID: 24917665

Text-mined citations for rs398124648...

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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 16, 2021