NM_000488.3(SERPINC1):c.1246G>T (p.Ala416Ser)

Variation ID: Help
18023
Review status: Help
criteria provided, conflicting interpretations1 star out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_000488.3(SERPINC1):c.1246G>T (p.Ala416Ser)

Allele ID:
33062
Variant type:
single nucleotide variant
Cytogenetic location:
1q25.1
Genomic location:
  • Chr1: 173904038 (on Assembly GRCh38)
  • Chr1: 173873176 (on Assembly GRCh37)
Other names:
  • AT-III Cambridge II
Protein change:
A384S, A416S
HGVS:
  • NG_012462.1:g.18341G>T
  • NM_000488.3:c.1246G>T
  • NP_000479.1:p.Ala416Ser
  • NC_000001.11:g.173904038C>A (GRCh38)
  • LRG_577t1:c.1246G>T
  • NC_000001.10:g.173873176C>A (GRCh37)
  • P01008:p.Ala416Ser
  • LRG_577p1:p.Ala416Ser
  • LRG_577:g.18341G>T
Links:
NCBI 1000 Genomes Browser:
rs121909548
Molecular consequence:
NM_000488.3:c.1246G>T: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • GO-ESP 0.00115 (A)
  • GMAF 0.00020 (A)
  • ExAC 0.00072 (A)

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
Uncertain significance
(Mar 12, 2015)
criteria provided, single submitter
clinical testinggermline
    InvitaeSCV000254588.1
    Likely benigncriteria provided, single submitter
    clinical testinggermline
      PreventionGeneticsSCV000304464.1
      Pathogenic
      (Jul 22, 1991)
      no assertion criteria providedliterature onlygermlineOMIMSCV000039937.1
      Uncertain significance
      (Jun 1, 2014)
      no assertion criteria providedresearch
      • Antithrombin deficiency (Autosomal dominant inheritance)[MedGen]
      germline
        CSER_CC_NCGL; University of Washington Medical Center - ESP 6500 variant annotation
        Study description
        SCV000190628.1
        SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
        Total for all submittersnot providednot providedgermlinenot providednot provided
        CSER_CC_NCGL; University of Washington Medical Centernot providednot providedgermlinenot providednot providednot providednot provided
        Invitaenot providednot providedgermlinenot providednot providednot providedThis sequence change replaces …Full description
        OMIMnot providednot providedgermlinenot providednot providednot provided
        PreventionGeneticsnot providednot providedgermlinenot providednot providednot providednot provided
        SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

        Last Updated: Nov 2, 2017