NM_000212.2(ITGB3):c.176T>C (p.Leu59Pro)

Variation ID: Help
13558
Review status: Help
criteria provided, conflicting interpretations1 star out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_000212.2(ITGB3):c.176T>C (p.Leu59Pro)

Allele ID:
28597
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.3
Genomic location:
  • Chr17: 47283364 (on Assembly GRCh38)
  • Chr17: 45360730 (on Assembly GRCh37)
Protein change:
L33P, L59P
HGVS:
  • NG_008332.2:g.34523T>C
  • NM_000212.2:c.176T>C
  • NP_000203.2:p.Leu59Pro
  • NC_000017.11:g.47283364T>C (GRCh38)
  • LRG_481t1:c.176T>C
  • NC_000017.10:g.45360730T>C (GRCh37)
  • NG_008332.1:g.34523T>C
  • P05106:p.Leu59Pro
  • LRG_481p1:p.Leu59Pro
  • LRG_481:g.34523T>C
Links:
NCBI 1000 Genomes Browser:
rs5918
Molecular consequence:
NM_000212.2:c.176T>C: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • GO-ESP 0.13648 (C)
  • GMAF 0.08890 (C)
  • ExAC 0.12354 (C)

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
Benigncriteria provided, single submitter
clinical testinggermline
    PreventionGeneticsSCV000302998.1
    Likely benign
    (Jun 14, 2016)
    criteria provided, single submitter
    clinical testinggermlineIllumina Clinical Services Laboratory,IlluminaSCV000403732.2
    Benign
    (Jan 1, 2007)
    no assertion criteria providedliterature only
    • PL(A1)/(A2) ALLOANTIGEN POLYMORPHISM
    germlineOMIMSCV000034770.3
    Pathogenic
    (Jan 1, 2007)
    no assertion criteria providedliterature only
    • Thrombocytopenia, neonatal alloimmune[MedGen]
    germlineOMIMSCV000034771.3
    Pathogenic
    (Jan 1, 2007)
    no assertion criteria providedliterature only
    • Posttransfusion purpura[MedGen]
    germlineOMIMSCV000034772.3
    risk factor
    (Jan 1, 2007)
    no assertion criteria providedliterature only
    • Myocardial infarction[MedGen]
    germlineOMIMSCV000034773.3
    risk factor
    (Jan 1, 2007)
    no assertion criteria providedliterature only
    • Fracture, hip, susceptibility to[MedGen]
    germlineOMIMSCV000034775.3
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Total for all submittersnot providednot providedgermlinenot providednot provided
    Illumina Clinical Services Laboratory,Illuminanot providednot providedgermlinenot providednot providednot provided
    OMIMnot providednot providedgermlinenot providednot providednot provided
    PreventionGeneticsnot providednot providedgermlinenot providednot providednot providednot provided
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: Sep 6, 2017