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NM_138694.3(PKHD1):c.1234-10T>A

Variation ID: Help
96377
Review status: Help
criteria provided, multiple submitters, no conflicts2 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Benign/Likely benign
Last evaluated:
Jun 14, 2016
Number of submission(s):
4
Condition(s):
See supporting ClinVar records

Allele(s) Help

NM_138694.3(PKHD1):c.1234-10T>A

Allele ID:
102271
Variant type:
single nucleotide variant
Cytogenetic location:
6p12.2
Genomic location:
  • Chr6: 52058611 (on Assembly GRCh38)
  • Chr6: 51923409 (on Assembly GRCh37)
HGVS:
  • NG_008753.1:g.34015T>A
  • NM_138694.3:c.1234-10T>A
  • NC_000006.12:g.52058611A>T (GRCh38)
  • NC_000006.11:g.51923409A>T (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs4715272
Molecular consequence:
NM_138694.3:c.1234-10T>A: intron variant [Sequence Ontology SO:0001627]
Allele frequency:
  • 1000 Genomes Project 0.11661 (T)
  • 1000 Genomes Project 0.11661
  • Exome Aggregation Consortium (ExAC) 0.15059
  • NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.14724
  • The Genome Aggregation Database (gnomAD) 0.12745
  • The Genome Aggregation Database (gnomAD), exomes 0.14766
  • Trans-Omics for Precision Medicine (TOPMed) 0.13714

1 Affected gene

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
Benign
(Feb 4, 2016)
criteria provided, single submitter
clinical testinggermlineEGL Genetic Diagnostics,Eurofins Clinical DiagnosticsSCV000114569.8
Benigncriteria provided, single submitter
clinical testinggermline
    PreventionGenetics,PreventionGeneticsSCV000315770.1
    Likely benign
    (Jun 14, 2016)
    criteria provided, single submitter
    clinical testinggermline
      Illumina Clinical Services Laboratory,IlluminaSCV000464119.2
      Benign
      (May 11, 2016)
      criteria provided, single submitter
      clinical testinggermline
        Department of Pathology and Laboratory Medicine,Sinai Health System - The Canadian Open Genetics Repository (COGR)SCV000592885.1
        SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
        Total for all submittersnot provided52germlinenot providednot provided
        Department of Pathology and Laboratory Medicine,Sinai Health Systemnot providednot providedgermlinenot providednot providednot providednot provided
        EGL Genetic Diagnostics,Eurofins Clinical Diagnosticsnot provided52germlinenot providednot providednot provided
        Illumina Clinical Services Laboratory,Illuminanot providednot providedgermlinenot providednot providednot providednot provided
        PreventionGenetics,PreventionGeneticsnot providednot providedgermlinenot providednot providednot providednot provided
        SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

        Last Updated: May 9, 2019

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