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NM_198056.2(SCN5A):c.21T>A (p.Pro7=)

Variation ID: Help
139038
Review status: Help
criteria provided, conflicting interpretations1 star out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_198056.2(SCN5A):c.21T>A (p.Pro7=)

Allele ID:
142741
Variant type:
single nucleotide variant
Cytogenetic location:
3p22.2
Genomic location:
  • Chr3: 38633287 (on Assembly GRCh38)
  • Chr3: 38674778 (on Assembly GRCh37)
Other names:
  • p.P7P:CCT>CCA
HGVS:
  • NG_008934.1:g.21386T>A
  • NM_000335.4:c.21T>A
  • NM_001099404.1:c.21T>A
  • NM_198056.2:c.21T>A
  • NP_000326.2:p.Pro7=
  • NP_001092874.1:p.Pro7=
  • NP_932173.1:p.Pro7=
  • NC_000003.12:g.38633287A>T (GRCh38)
  • LRG_289t1:c.21T>A
  • LRG_289t2:c.21T>A
  • LRG_289t3:c.21T>A
  • NC_000003.11:g.38674778A>T (GRCh37)
  • LRG_289p1:p.Pro7=
  • LRG_289p2:p.Pro7=
  • LRG_289p3:p.Pro7=
  • LRG_289:g.21386T>A
Links:
NCBI 1000 Genomes Browser:
rs587781157
Molecular consequence:
NM_198056.2:c.21T>A: synonymous variant [Sequence Ontology SO:0001819]
Allele frequency:
  • Exome Aggregation Consortium (ExAC) 0.00001
  • The Genome Aggregation Database (gnomAD) 0.00006
  • The Genome Aggregation Database (gnomAD), exomes 0.00001
  • Trans-Omics for Precision Medicine (TOPMed) 0.00002

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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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
Benign
(Apr 16, 2014)
criteria provided, single submitter
clinical testinggermline
    GeneDxSCV000171541.11
    Uncertain significance
    (Jun 14, 2016)
    criteria provided, single submitter
    clinical testinggermline
      Illumina Clinical Services Laboratory,IlluminaSCV000444217.2
      Uncertain significance
      (Jun 14, 2016)
      criteria provided, single submitter
      clinical testinggermline
        Illumina Clinical Services Laboratory,IlluminaSCV000444218.2
        Uncertain significance
        (Jun 14, 2016)
        criteria provided, single submitter
        clinical testinggermline
          Illumina Clinical Services Laboratory,IlluminaSCV000444219.2
          Uncertain significance
          (Jun 14, 2016)
          criteria provided, single submitter
          clinical testinggermline
            Illumina Clinical Services Laboratory,IlluminaSCV000444220.2
            Uncertain significance
            (Jun 14, 2016)
            criteria provided, single submitter
            clinical testinggermline
              Illumina Clinical Services Laboratory,IlluminaSCV000444221.2
              Uncertain significance
              (Jun 14, 2016)
              criteria provided, single submitter
              clinical testing
              • Dilated Cardiomyopathy, Dominant[MedGen]
              germline
                Illumina Clinical Services Laboratory,IlluminaSCV000444222.2
                Uncertain significance
                (Jun 14, 2016)
                criteria provided, single submitter
                clinical testinggermline
                  Illumina Clinical Services Laboratory,IlluminaSCV000444223.2
                  SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
                  Total for all submittersnot providednot providedgermlinenot providednot provided
                  GeneDxnot providednot providedgermlinenot providednot providednot providedThis variant is considered likā€¦Full description
                  Illumina Clinical Services Laboratory,Illuminanot providednot providedgermlinenot providednot providednot providednot provided
                  SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

                  Last Updated: Mar 31, 2019

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