NM_001035.2(RYR2):c.4040T>G (p.Met1347Arg)

Variation ID: Help
36742
Review status: Help
criteria provided, conflicting interpretations1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Conflicting interpretations of pathogenicity
Likely pathogenic(1);Uncertain significance(1)
Last evaluated:
Oct 5, 2015
Number of submission(s):
2
Condition(s):
See supporting ClinVar records

Allele(s) Help

NM_001035.2(RYR2):c.4040T>G (p.Met1347Arg)

Allele ID:
45403
Variant type:
single nucleotide variant
Cytogenetic location:
1q43
Genomic location:
  • Chr1: 237590872 (on Assembly GRCh38)
  • Chr1: 237754172 (on Assembly GRCh37)
Protein change:
M1347R
HGVS:
  • NG_008799.2:g.553471T>G
  • NM_001035.2:c.4040T>G
  • NP_001026.2:p.Met1347Arg
  • NC_000001.11:g.237590872T>G (GRCh38)
  • NC_000001.10:g.237754172T>G (GRCh37)
Links:
dbSNP: 193922625
NCBI 1000 Genomes Browser:
rs193922625
Molecular consequence:
NM_001035.2:c.4040T>G: missense variant [Sequence Ontology SO:0001583]

Variant frequency in dbGaP Help

NM_001035.2(RYR2):c.4040T>G (p.Met1347Arg)

GRCh37 Chr1:237754172
Called variantsPotential variants
Sample countno data0 of 43717

Called variants are samples submitted to dbGaP that have the variant allele. Potential variants are SRA runs that display the allele in at least 30% of the reads covering the position, and have 10 or more passing reads covering the position.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Likely pathogenic
(Aug 18, 2011)
criteria provided, single submitter
literature only
  • Cardiac arrhythmia (Autosomal unknown)[MedGen | OMIM]
germline
    Laboratory Corporation of America,SCV000053090.1
    Uncertain significance
    (Oct 5, 2015)
    no assertion criteria providedclinical testinggermline
      Stanford Center for Inherited Cardiovascular Disease,Stanford UniversitySCV000280451.1
      SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
      Total for all submittersnot provided1germlinenot providednot provided
      Laboratory Corporation of America,not provided1germlinenot providednot providednot providednot provided
      Stanford Center for Inherited Cardiovascular Disease,Stanford Universitynot providednot providedgermlinenot providednot providednot providedNote this variant was found in…Full description
      SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

      Last Updated: Jun 24, 2017