Click here to see the new Variation Report design!

NM_000447.2(PSEN2):c.1316A>C (p.Asp439Ala)

Variation ID: Help
8847
Review status: Help
criteria provided, conflicting interpretations1 star out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_000447.2(PSEN2):c.1316A>C (p.Asp439Ala)

Allele ID:
23886
Variant type:
single nucleotide variant
Cytogenetic location:
1q42.1
Genomic location:
  • Chr1: 226895548 (on Assembly GRCh38)
  • Chr1: 227083249 (on Assembly GRCh37)
Protein change:
D439A
HGVS:
  • NG_007381.1:g.29977A>C
  • NM_000447.2:c.1316A>C
  • NP_000438.2:p.Asp439Ala
  • NC_000001.11:g.226895548A>C (GRCh38)
  • NC_000001.10:g.227083249A>C (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs63750110
Molecular consequence:
NM_000447.2:c.1316A>C: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • GO-ESP 0.00015 (C)
  • ExAC 0.00004 (C)

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
(Jun 24, 2013)
criteria provided, single submitter
researchunknown
    Biesecker Lab/Human Development Section,National Institutes of Health - ClinSeq
    Study description
    SCV000054723.1
    Pathogenic
    (Nov 27, 2001)
    no assertion criteria providedliterature onlygermlineOMIMSCV000029613.2
    not providedno assertion providedliterature onlynot provided
      VIB Department of Molecular Genetics, University of AntwerpSCV000116405.1
      SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
      Total for all submittersnot provided1germline, not provided, unknownnot providednot provided
      Biesecker Lab/Human Development Section,National Institutes of Healthnot provided1unknownnot providednot providednot providednot provided
      OMIMnot providednot providedgermlinenot providednot providednot provided
      VIB Department of Molecular Genetics, University of Antwerpnot providednot providednot providednot providednot providednot providednot provided
      SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

      Last Updated: May 18, 2018