NM_001743.6(CALM2):c.293A>G (p.Asn98Ser) 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:
RCV000143836.1

Allele description [Variation Report for NM_001743.6(CALM2):c.293A>G (p.Asn98Ser)]

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

Gene:
CALM2:calmodulin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p21
Genomic location:
Preferred name:
NM_001743.6(CALM2):c.293A>G (p.Asn98Ser)
HGVS:
  • NC_000002.12:g.47161851T>C
  • NG_042065.1:g.20086A>G
  • NM_001305624.1:c.437A>G
  • NM_001305625.1:c.185A>G
  • NM_001305626.1:c.185A>G
  • NM_001743.6:c.293A>GMANE SELECT
  • NP_001292553.1:p.Asn146Ser
  • NP_001292554.1:p.Asn62Ser
  • NP_001292555.1:p.Asn62Ser
  • NP_001734.1:p.Asn98Ser
  • NC_000002.11:g.47388990T>C
  • NM_001743.4:c.293A>G
  • P62158:p.Asn98Ser
  • p.N98S
Protein change:
N146S; ASN98SER
Links:
UniProtKB: P62158#VAR_069223; OMIM: 114182.0003; dbSNP: rs398124647
NCBI 1000 Genomes Browser:
rs398124647
Molecular consequence:
  • NM_001305624.1:c.437A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001305625.1:c.185A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001305626.1:c.185A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001743.6:c.293A>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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000114924George Lab Vanderbilt Universityno assertion criteria providedprobable-pathogenicgermlinenot provided

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot provided2not providedliterature only

Details of each submission

From George Lab Vanderbilt University, SCV000114924.1

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

Description

Converted during submission to Likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot provided2not providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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