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NM_000165.5(GJA1):c.-67C>G

Variation ID: Help
355157
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Likely benign
Last evaluated:
Jun 14, 2016
Number of submission(s):
3
Condition(s):
See supporting ClinVar records

Allele(s) Help

NM_000165.5(GJA1):c.-67C>G

Allele ID:
298842
Variant type:
single nucleotide variant
Cytogenetic location:
6q22.31
Genomic location:
  • Chr6: 121435782 (on Assembly GRCh38)
  • Chr6: 121756928 (on Assembly GRCh37)
HGVS:
  • NG_008308.1:g.5184C>G
  • NM_000165.5:c.-67C>G
  • NC_000006.12:g.121435782C>G (GRCh38)
  • NC_000006.11:g.121756928C>G (GRCh37)
  • NM_000165.3:c.-67C>G
  • NM_000165.4:c.-67C>G
Links:
NCBI 1000 Genomes Browser:
rs111581053
Molecular consequence:
NM_000165.4:c.-67C>G: 5 prime UTR variant [Sequence Ontology SO:0001623]
Allele frequency:
  • 1000 Genomes Project 0.00260 (G)
  • 1000 Genomes Project 0.00260
  • The Genome Aggregation Database (gnomAD) 0.00300
  • Trans-Omics for Precision Medicine (TOPMed) 0.00341

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
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
clinical testinggermline
    Illumina Clinical Services Laboratory,IlluminaSCV000459813.2
    Likely benign
    (Jun 14, 2016)
    criteria provided, single submitter
    clinical testinggermline
      Illumina Clinical Services Laboratory,IlluminaSCV000459814.2
      Likely benign
      (Jun 14, 2016)
      criteria provided, single submitter
      clinical testinggermline
        Illumina Clinical Services Laboratory,IlluminaSCV000459815.2
        SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
        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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