Click here to see the new Variation Report design!

NM_000052.6(ATP7A):c.1516A>G (p.Ile506Val)

Variation ID: Help
210393
Review status: Help
criteria provided, conflicting interpretations1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Conflicting interpretations of pathogenicity
Benign(3);Uncertain significance(1)
Last evaluated:
Oct 22, 2017
Number of submission(s):
4
Condition(s):
See supporting ClinVar records

Allele(s) Help

NM_000052.6(ATP7A):c.1516A>G (p.Ile506Val)

Allele ID:
209218
Variant type:
single nucleotide variant
Cytogenetic location:
Xq21.1
Genomic location:
  • ChrX: 77998657 (on Assembly GRCh38)
  • ChrX: 77254154 (on Assembly GRCh37)
Protein change:
I506V
HGVS:
  • NG_013224.2:g.92961A>G
  • NM_000052.6:c.1516A>G
  • NP_000043.4:p.Ile506Val
  • NC_000023.11:g.77998657A>G (GRCh38)
  • NR_104109.1:n.321+26896A>G
  • NC_000023.10:g.77254154A>G (GRCh37)
  • NM_000052.4:c.1516A>G
Links:
NCBI 1000 Genomes Browser:
rs143907597
Molecular consequence:
  • NM_000052.6:c.1516A>G: missense variant SO:0001583
  • NR_104109.1:n.321+26896A>G: intron variant SO:0001627
Allele frequency:
  • 1000 Genomes Project 0.01086 (G)
  • 1000 Genomes Project 0.01086
  • Exome Aggregation Consortium (ExAC) 0.00260
  • NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00928
  • The Genome Aggregation Database (gnomAD) 0.00661
  • The Genome Aggregation Database (gnomAD), exomes 0.00191
  • Trans-Omics for Precision Medicine (TOPMed) 0.00832

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

Browser views

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Uncertain significance
(Feb 8, 2013)
criteria provided, single submitter
clinical testinggermline
    Genetic Services Laboratory, University of ChicagoSCV000246645.1
    Benign
    (Jun 18, 2015)
    criteria provided, single submitter
    clinical testinggermline
      GeneDxSCV000512204.4
      Benign
      (Oct 22, 2017)
      criteria provided, single submitter
      clinical testinggermline
        InvitaeSCV000639964.2
        Benign
        (Nov 4, 2016)
        criteria provided, single submitter
        clinical testing
        • History of neurodevelopmental disorder[MedGen]
        germline
          Ambry GeneticsSCV000848203.2
          SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
          Total for all submittersnot provided1germlinenot providednot provided
          Ambry Geneticsnot provided1germlinenot providednot providednot providedLines of evidence used in supp…Full description
          GeneDxnot providednot providedgermlinenot providednot providednot providedThis variant is considered lik…Full description
          Genetic Services Laboratory, University of Chicagonot providednot providedgermlinenot providednot providednot providednot provided
          Invitaenot providednot providedgermlinenot providednot providednot providednot provided
          SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

          Last Updated: Mar 31, 2019

          Support Center