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NM_000787.3(DBH):c.339+2T>C

Variation ID: Help
1750
Review status: Help
criteria provided, multiple submitters, no conflicts2 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Oct 11, 2018
Number of submission(s):
7
Condition(s):
See supporting ClinVar records

Allele(s) Help

NM_000787.3(DBH):c.339+2T>C

Allele ID:
16789
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.2
Genomic location:
  • Chr9: 133636712 (on Assembly GRCh38)
  • Chr9: 136501834 (on Assembly GRCh37)
Other names:
  • IVS1+2T>C
HGVS:
  • NG_008645.1:g.5350T>C
  • NM_000787.3:c.339+2T>C
  • NC_000009.12:g.133636712T>C (GRCh38)
  • NC_000009.11:g.136501834T>C (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs74853476
Molecular consequence:
NM_000787.3:c.339+2T>C: splice donor variant [Sequence Ontology SO:0001575]
Allele frequency:
  • 1000 Genomes Project 0.00040 (C)
  • 1000 Genomes Project 0.00040
  • Exome Aggregation Consortium (ExAC) 0.00060
  • NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00092
  • The Genome Aggregation Database (gnomAD) 0.00117
  • The Genome Aggregation Database (gnomAD), exomes 0.00071
  • Trans-Omics for Precision Medicine (TOPMed) 0.00134

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
Pathogenic
(Jan 5, 2016)
criteria provided, single submitter
clinical testinggermlineEGL Genetic Diagnostics,Eurofins Clinical DiagnosticsSCV000338742.4
Pathogenic
(Jun 14, 2016)
criteria provided, single submitter
clinical testinggermlineIllumina Clinical Services Laboratory,IlluminaSCV000478423.2
Pathogenic
(Oct 11, 2018)
criteria provided, single submitter
clinical testinggermline
    GeneDxSCV000567012.4
    Pathogenic
    (Jun 6, 2018)
    criteria provided, single submitter
    clinical testinggermlineInvitaeSCV000818281.1
    Pathogenic
    (Sep 30, 2014)
    criteria provided, single submitter
    clinical testing
    • Dopamine beta hydroxylase deficiency (Autosomal recessive inheritance)[MedGen | Orphanet | OMIM]
    germlineLaboratory for Molecular Medicine,Partners HealthCare Personalized Medicine - CSER-MedSeqSCV000245597.1
    Pathogenic
    (Oct 29, 2015)
    no assertion criteria providedliterature onlygermlineGeneReviewsSCV000256551.1
    Pathogenic
    (Dec 1, 2003)
    no assertion criteria providedliterature onlygermlineOMIMSCV000021976.3
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Total for all submitters12germlinenot providednot provided
    EGL Genetic Diagnostics,Eurofins Clinical Diagnosticsnot provided1germlinenot providednot providednot provided
    GeneDxnot providednot providedgermlinenot providednot providednot providedThe c.339+2T>C variant in the …Full description
    GeneReviewsnot providednot providedgermlinenot providednot providednot provided
    Illumina Clinical Services Laboratory,Illuminanot providednot providedgermlinenot providednot providedThe c.339+2T>C variant, also r…Full description
    Invitaenot providednot providedgermlinenot providednot providedThis sequence change affects a…Full description
    Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine11germlinenot providednot providedThe 339+2T>C variant in DBH ha…Full description
    OMIMnot providednot providedgermlinenot providednot providednot provided
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: Apr 17, 2019

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