Click here to see the new Variation Report design!

NM_002691.3(POLD1):c.714G>A (p.Thr238=)

Variation ID: Help
220847
Review status: Help
criteria provided, multiple submitters, no conflicts2 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_002691.3(POLD1):c.714G>A (p.Thr238=)

Allele ID:
222830
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.33
Genomic location:
  • Chr19: 50402329 (on Assembly GRCh38)
  • Chr19: 50905586 (on Assembly GRCh37)
HGVS:
  • NG_033800.1:g.23007G>A
  • NM_001256849.1:c.714G>A
  • NM_001308632.1:c.714G>A
  • NM_002691.3:c.714G>A
  • NP_001243778.1:p.Thr238=
  • NP_001295561.1:p.Thr238=
  • NP_002682.2:p.Thr238=
  • NC_000019.10:g.50402329G>A (GRCh38)
  • LRG_785t1:c.714G>A
  • LRG_785t2:c.714G>A
  • NR_046402.1:n.783G>A
  • NC_000019.9:g.50905586G>A (GRCh37)
  • NM_002691.2:c.714G>A
  • LRG_785p1:p.Thr238=
  • LRG_785p2:p.Thr238=
  • LRG_785:g.23007G>A
Links:
NCBI 1000 Genomes Browser:
rs149096523
Molecular consequence:
  • NM_001256849.1:c.714G>A: synonymous variant SO:0001819
  • NR_046402.1:n.783G>A: non-coding transcript variant SO:0001619
Allele frequency:
  • 1000 Genomes Project 0.00040 (A)
  • 1000 Genomes Project 0.00040
  • Exome Aggregation Consortium (ExAC) 0.00022
  • NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00077
  • The Genome Aggregation Database (gnomAD) 0.00029
  • The Genome Aggregation Database (gnomAD), exomes 0.00020
  • Trans-Omics for Precision Medicine (TOPMed) 0.00027

1 Affected gene

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
Likely benign
(Dec 27, 2017)
criteria provided, single submitter
clinical testinggermline
    InvitaeSCV000261722.5
    Likely benign
    (Oct 13, 2017)
    criteria provided, single submitter
    clinical testinggermline
      GeneDxSCV000518484.4
      Likely benign
      (Apr 21, 2017)
      criteria provided, single submitter
      clinical testinggermline
        Quest Diagnostics Nichols Institute San Juan CapistranoSCV000601951.1
        Likely benign
        (Jul 7, 2015)
        criteria provided, single submitter
        clinical testing
        • Hereditary cancer-predisposing syndrome[MedGen]
        germline
          Ambry GeneticsSCV000670913.2
          Benign
          (Jun 21, 2018)
          criteria provided, single submitter
          clinical testinggermline
            Quest Diagnostics Nichols Institute San Juan CapistranoSCV000888477.1
            SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
            Total for all submittersnot provided1germlinenot providednot provided
            Ambry Geneticsnot provided1germlinenot providednot providednot providednot provided
            GeneDxnot providednot providedgermlinenot providednot providednot providedThis variant is considered likā€¦Full description
            Invitaenot providednot providedgermlinenot providednot providednot providednot provided
            Quest Diagnostics Nichols Institute San Juan Capistranonot providednot providedgermlinenot providednot providednot providednot provided
            SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

            Last Updated: Mar 31, 2019

            Support Center