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NM_018129.3(PNPO):c.674G>A (p.Arg225His)

Variation ID: Help
223153
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Jun 3, 2017
Number of submission(s):
3
Condition(s):
See supporting ClinVar records

Allele(s) Help

NM_018129.3(PNPO):c.674G>A (p.Arg225His)

Allele ID:
224877
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.32
Genomic location:
  • Chr17: 47946670 (on Assembly GRCh38)
  • Chr17: 46024036 (on Assembly GRCh37)
Protein change:
R225H
HGVS:
  • NG_008744.1:g.10148G>A
  • NM_018129.3:c.674G>A
  • NP_060599.1:p.Arg225His
  • NC_000017.11:g.47946670G>A (GRCh38)
  • NC_000017.10:g.46024036G>A (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs550423482
Molecular consequence:
NM_018129.3:c.674G>A: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • 1000 Genomes Project 0.00020 (A)
  • 1000 Genomes Project 0.00020
  • Exome Aggregation Consortium (ExAC) 0.00006
  • The Genome Aggregation Database (gnomAD), exomes 0.00003
  • 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
Pathogenic
(Jun 3, 2017)
criteria provided, single submitter
clinical testinggermline
    InvitaeSCV000644981.1
    Pathogenic
    (Mar 3, 2016)
    no assertion criteria providedliterature onlygermlineOMIMSCV000264658.1
    Pathogenic
    (Jan 27, 2016)
    no assertion criteria providedclinical testingunknown
      Centre for Mendelian Genomics,University Medical Centre Ljubljana
      Study description
      SCV000492675.1
      SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
      Total for all submittersnot providednot providedgermline, unknownnot providednot provided
      Centre for Mendelian Genomics,University Medical Centre Ljubljananot providednot providedunknownnot providednot providednot providednot provided
      Invitaenot providednot providedgermlinenot providednot providednot providedThis sequence change replaces …Full description
      OMIMnot providednot providedgermlinenot providednot providednot provided
      SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

      Last Updated: Mar 31, 2019

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