Click here to see the new Variation Report design!

NM_000053.3(ATP7B):c.1969A>C (p.Ser657Arg)

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

Interpretation Help

Clinical significance:
Conflicting interpretations of pathogenicity
Pathogenic(1);Uncertain significance(1)
Last evaluated:
Apr 13, 2017
Number of submission(s):
See supporting ClinVar records

Allele(s) Help

NM_000053.3(ATP7B):c.1969A>C (p.Ser657Arg)

Allele ID:
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
  • Chr13: 51960300 (on Assembly GRCh38)
  • Chr13: 52534436 (on Assembly GRCh37)
Protein change:
  • NG_008806.1:g.56195A>C
  • NM_000053.3:c.1969A>C
  • NM_001005918.2:c.1870-2693A>C
  • NP_000044.2:p.Ser657Arg
  • NC_000013.11:g.51960300T>G (GRCh38)
  • NC_000013.10:g.52534436T>G (GRCh37)
  • NM_000053.2:c.1969A>C
  • P35670:p.Ser657Arg
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_000053.3:c.1969A>C: missense variant SO:0001583
  • NM_001005918.2:c.1870-2693A>C: intron variant SO:0001627
Allele frequency:
  • NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00016
  • The Genome Aggregation Database (gnomAD) 0.00003
  • The Genome Aggregation Database (gnomAD), exomes 0.00001
  • Trans-Omics for Precision Medicine (TOPMed) 0.00001

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

Browser views

Assertion and evidence details


Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
(Feb 8, 2013)
criteria provided, single submitter
clinical testinggermline
    Genetic Services Laboratory, University of ChicagoSCV000192315.1
    Uncertain significance
    (Apr 13, 2017)
    criteria provided, single submitter
    clinical testinggermlineIntegrated Genetics/Laboratory Corporation of AmericaSCV000694409.1
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Total for all submittersnot providednot providedgermlinenot providednot provided
    Genetic Services Laboratory, University of Chicagonot providednot providedgermlinenot providednot providednot providednot provided
    Integrated Genetics/Laboratory Corporation of Americanot providednot providedgermlinenot providednot providedVariant summary: The ATP7B c.1…Full description
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: Mar 31, 2019

    Support Center