NM_001743.6(CALM2):c.396T>G (p.Asp132Glu) AND Long QT syndrome 1

Clinical significance:Likely pathogenic

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000143838.1

Allele description [Variation Report for NM_001743.6(CALM2):c.396T>G (p.Asp132Glu)]

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

Gene:
CALM2:calmodulin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p21
Genomic location:
Preferred name:
NM_001743.6(CALM2):c.396T>G (p.Asp132Glu)
HGVS:
  • NC_000002.12:g.47161748A>C
  • NG_042065.1:g.20189T>G
  • NM_001305624.1:c.540T>G
  • NM_001305625.2:c.288T>G
  • NM_001305626.1:c.288T>G
  • NM_001743.6:c.396T>GMANE SELECT
  • NP_001292553.1:p.Asp180Glu
  • NP_001292554.1:p.Asp96Glu
  • NP_001292555.1:p.Asp96Glu
  • NP_001734.1:p.Asp132Glu
  • NC_000002.11:g.47388887A>C
  • NM_001743.4:c.396T>G
  • P62158:p.Asp132Glu
  • p.D132E
Protein change:
D132E; ASP132GLU
Links:
UniProtKB: P62158#VAR_073279; OMIM: 114182.0005; dbSNP: rs398124648
NCBI 1000 Genomes Browser:
rs398124648
Molecular consequence:
  • NM_001305624.1:c.540T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001305625.2:c.288T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001305626.1:c.288T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001743.6:c.396T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Long QT syndrome 1 (LQT1)
Identifiers:
MONDO: MONDO:0100316; MedGen: C4551647; Orphanet: 101016; Orphanet: 768; OMIM: 192500

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000114926George Lab Vanderbilt Universityno assertion criteria providedprobable-pathogenicgermlinenot provided

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot provided1not providedliterature only

Details of each submission

From George Lab Vanderbilt University, SCV000114926.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided

Description

Converted during submission to Likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Oct 24, 2021

Support Center