NM_000038.5(APC):c.3920T>A (p.Ile1307Lys)

Variation ID: Help
822
Review status: Help
criteria provided, conflicting interpretations1 star out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_000038.5(APC):c.3920T>A (p.Ile1307Lys)

Allele ID:
15861
Variant type:
single nucleotide variant
Cytogenetic location:
5q22
Genomic location:
  • Chr5: 112839514 (on Assembly GRCh38)
  • Chr5: 112175211 (on Assembly GRCh37)
Other names:
  • p.I1307K:ATA>AAA
  • 3920T>A
Protein change:
I1307K, I1289K
HGVS:
  • NG_008481.4:g.151994T>A
  • NM_000038.5:c.3920T>A
  • NM_001127510.2:c.3920T>A
  • NM_001127511.2:c.3866T>A
  • NP_000029.2:p.Ile1307Lys
  • NP_001120982.1:p.Ile1307Lys
  • NP_001120983.2:p.Ile1289Lys
  • NC_000005.10:g.112839514T>A (GRCh38)
  • NC_000005.9:g.112175211T>A (GRCh37)
  • NM_000038.3:c.3920T>A
  • NM_000038.4:c.3920T>A
  • P25054:p.Ile1307Lys
  • LRG_130p1:p.Ile1307Lys
  • LRG_130p2:p.Ile1307Lys
  • LRG_130:g.151994T>A
Links:
NCBI 1000 Genomes Browser:
rs1801155
Molecular consequence:
NM_000038.5:c.3920T>A: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
GO-ESP 0.00108 (A)

Variant frequency in dbGaP Help

NM_000038.5(APC):c.3920T>A (p.Ile1307Lys)

GRCh37 Chr5:112175211
Called variantsPotential variants
Sample count10 of 8431175 of 40910

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.

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
risk factor
(Aug 26, 2014)
criteria provided, single submitter
clinical testinggermline
    GeneDxSCV000148996.3
    risk factor
    (Jan 23, 2017)
    criteria provided, single submitter
    clinical testinggermline
      InvitaeSCV000153895.6
      Pathogenic
      (Apr 13, 2016)
      criteria provided, single submitter
      clinical testing
      • Hereditary cancer-predisposing syndrome[MedGen]
      germline
        Ambry Genetics,SCV000183892.3
        risk factor
        (Nov 20, 2015)
        criteria provided, single submitter
        clinical testing
        • Colorectal cancer, susceptibility to[MedGen]
        germline
          University of Washington Department of Laboratory Medicine,University of WashingtonSCV000266006.1
          Uncertain significance
          (Nov 24, 2015)
          criteria provided, single submitter
          clinical testingunknown
            Division of Genomic Diagnostics,The Children's Hospital of Philadelphia
            Study description
            SCV000297021.2
            risk factor
            (Feb 19, 2014)
            no assertion criteria providedliterature only
            • Adenomatous polyposis coli, susceptibility to
            unknownOMIMSCV000021014.2
            risk factor
            (Dec 1, 2003)
            no assertion criteria providedliterature only
            • Breast cancer, susceptibility to[MedGen]
            unknownOMIMSCV000021015.2
            Pathogenic
            (Oct 27, 2011)
            no assertion criteria providedliterature onlynot providedGeneReviewsSCV000040392 .1
            Uncertain significance
            (Jul 13, 2012)
            no assertion criteria providedresearchgermlineBiesecker Lab/Human Development Section,National Institutes of Health - ClinSeqSCV000043125.1
            not provided
            (Sep 19, 2013)
            no assertion providedreference populationgermlineITMISCV000084184.1
            SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
            Total for all submittersnot provided15germline, not provided, unknown
            African; African_European; Central_Asian; East_Asian; European; Hispanic; Whole_cohort
            not provided
            Ambry Genetics,not provided1germlinenot providednot providednot providednot provided
            Biesecker Lab/Human Development Section,National Institutes of Healthnot provided5germlinenot providednot providednot providednot provided
            Division of Genomic Diagnostics,The Children's Hospital of Philadelphianot providednot providedunknownnot providednot providednot providednot provided
            GeneDxnot providednot providedgermlinenot providednot providednot providedCommon variant present in up t…Full description
            GeneReviewsnot providednot providednot providednot providednot providednot provided
            ITMInot providednot providedgermline
            African; African_European; Central_Asian; East_Asian; European; Hispanic; Whole_cohort
            not providednot providednot provided
            Invitaenot providednot providedgermlinenot providednot providednot providedThis sequence change replaces …Full description
            OMIMnot providednot providedunknownnot providednot providednot provided
            University of Washington Department of Laboratory Medicine,University of Washingtonnot provided9germlinenot providednot providednot providedLow penetrance mutation that i…Full description
            SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

            Last Updated: May 22, 2017