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

Variation ID: Help
157932
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):
2
Condition(s):
See supporting ClinVar records

Allele(s) Help

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

Allele ID:
167779
Variant type:
single nucleotide variant
Cytogenetic location:
13q14.3
Genomic location:
  • Chr13: 51960300 (on Assembly GRCh38)
  • Chr13: 52534436 (on Assembly GRCh37)
Protein change:
S657R
HGVS:
  • 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
Links:
NCBI 1000 Genomes Browser:
rs372436901
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.

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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
Pathogenic
(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

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