NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val)

Variation ID: Help
17969
Review status: Help
criteria provided, multiple submitters, no conflicts2 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val)

Allele ID:
33008
Variant type:
single nucleotide variant
Cytogenetic location:
14q32.1
Genomic location:
  • Chr14: 94380925 (on Assembly GRCh38)
  • Chr14: 94847262 (on Assembly GRCh37)
Other names:
  • PI*S
  • SERPINA1, GLU264VAL ON M1V
  • S
Protein change:
E264V, E288V
HGVS:
  • NG_008290.1:g.14768A>T
  • NM_000295.4:c.863A>T
  • NM_001127701.1:c.863A>T
  • NP_000286.3:p.Glu288Val
  • NP_001121173.1:p.Glu288Val
  • NC_000014.9:g.94380925T>A (GRCh38)
  • NC_000014.8:g.94847262T>A (GRCh37)
  • P01009:p.Glu288Val
Links:
NCBI 1000 Genomes Browser:
rs17580
Molecular consequence:
NM_001127701.1:c.863A>T: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • GO-ESP 0.03060 (A)
  • GMAF 0.01960 (A)
  • ExAC 0.02007 (A)

Variant frequency in dbGaP Help

NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val)

GRCh37 Chr14:94847262
Called variantsPotential variants
Sample count480 of 93702460 of 40958

Called variants are samples submitted to dbGaP that have the variant allele. Potential variants are SRA runs that display the allele in at least 30% of the reads covering the position, and have 10 or more passing reads covering the position.

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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
other
(Mar 14, 2016)
criteria provided, single submitter
clinical testinggermline
    Emory Genetics Laboratory,Emory UniversitySCV000228843.3
    Pathogenic
    (Jun 14, 2016)
    criteria provided, single submitter
    clinical testinggermlineIllumina Clinical Services Laboratory,IlluminaSCV000389650.2
    Pathogenic
    (Mar 30, 2016)
    criteria provided, single submitter
    clinical testinggermline
      Knight Diagnostic Laboratories,Oregon Health and Sciences University - CSER-NextGenSCV000538062.1
      Pathogenic
      (Feb 24, 2017)
      criteria provided, single submitter
      clinical testinggermline
        GeneDxSCV000568767.1
        Pathogenic
        (Jun 10, 2016)
        no assertion criteria providedresearchgermlineDivision of Human Genetics,Children's Hospital of Philadelphia - CSER-PediSeqSCV000536794.1
        Pathogenic
        (May 1, 2016)
        no assertion criteria providedclinical testing
        • Alpha-1-antitrypsin deficiency (Autosomal recessive inheritance)[MedGen | Orphanet | OMIM]
        germline, maternal
          Baylor Miraca Genetics LaboratoriesSCV000328789.1
          Pathogenic
          (May 1, 2014)
          no assertion criteria providedliterature onlygermlineGeneReviewsSCV000256613.1
          other
          (Jul 15, 2016)
          no assertion criteria providedliterature only
          • PI S
          germlineOMIMSCV000039866.2
          Pathogenic
          (Jun 1, 2014)
          no assertion criteria providedresearch
          • Alpha-1-antitrypsin deficiency (Autosomal recessive inheritance)[MedGen | Orphanet | OMIM]
          germline
            CSER_CC_NCGL; University of Washington Medical Center - ESP 6500 variant annotation
            Study description
            SCV000190622.1
            not provided
            (Aug 6, 2015)
            no assertion providedclinical testinggermlineLaboratory for Molecular Medicine,Partners HealthCare Personalized MedicineSCV000271304.1
            SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
            Total for all submitters146germline, maternalnot providednot provided
            Baylor Miraca Genetics Laboratoriesnot providednot providedgermline, maternalnot providednot providednot providedOur laboratory reported two mo…Full description
            CSER_CC_NCGL; University of Washington Medical Centernot providednot providedgermlinenot providednot providednot providednot provided
            Division of Human Genetics,Children's Hospital of Philadelphianot providednot providedgermlinenot providednot providednot provided
            Emory Genetics Laboratory,Emory Universitynot provided45germlinenot providednot providednot provided"Variant classified as "other …Full description
            GeneDxnot providednot providedgermlinenot providednot providednot providedThe E288V variant in the SERPI…Full description
            GeneReviewsnot providednot providedgermlinenot providednot providednot provided
            Illumina Clinical Services Laboratory,Illuminanot providednot providedgermlinenot providednot providedThe c.863A>T (p.Glu288Val) var…Full description
            Knight Diagnostic Laboratories,Oregon Health and Sciences Universitynot providednot providedgermlinenot providednot providednot providedThe variant c.863A>T (p.Glu288…Full description
            Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine11germlinenot providednot providedThe p.Glu288Val variant (also …Full description
            OMIMnot providednot providedgermlinenot providednot providednot provided
            SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

            Last Updated: May 22, 2017