NM_006432.3(NPC2):c.441+1G>A

Variation ID: Help
100734
Review status: Help
criteria provided, conflicting interpretations1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Conflicting interpretations of pathogenicity
Pathogenic(1);Uncertain significance(3)
Last evaluated:
Sep 29, 2016
Number of submission(s):
4
Condition(s):
See supporting ClinVar records

Allele(s) Help

NM_006432.3(NPC2):c.441+1G>A

Allele ID:
106599
Variant type:
single nucleotide variant
Cytogenetic location:
14q24.3
Genomic location:
  • Chr14: 74480701 (on Assembly GRCh38)
  • Chr14: 74947404 (on Assembly GRCh37)
Other names:
  • UNC
HGVS:
  • NG_007117.1:g.17681G>A
  • NM_006432.3:c.441+1G>A
  • NC_000014.9:g.74480701C>T (GRCh38)
  • NC_000014.8:g.74947404C>T (GRCh37)
Links:
dbSNP: 140130028
NCBI 1000 Genomes Browser:
rs140130028
Molecular consequence:
NM_006432.3:c.441+1G>A: splice donor variant [Sequence Ontology SO:0001575]
Allele frequency:
  • GMAF 0.00100 (T)
  • ExAC 0.00363 (T)

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
Uncertain significance
(May 14, 2015)
criteria provided, single submitter
clinical testinggermlineEGL Genetic Diagnostics,Eurofins Clinical DiagnosticsSCV000203128.5
Uncertain significance
(Jan 29, 2016)
criteria provided, single submitter
clinical testinggermline
    Center for Pediatric Genomic Medicine,Children's Mercy Hospital and ClinicsSCV000281338.1
    Uncertain significance
    (Sep 29, 2016)
    criteria provided, single submitter
    clinical testinggermline
      GeneDxSCV000513950.2
      Pathogenicno assertion criteria providedresearchinherited
        Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de CompostelaSCV000119957.1
        SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
        Total for all submittersnot provided17germline, inheritednot providednot provided
        Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinicsnot providednot providedgermlinenot providednot providednot providedConverted during submission to…Full description
        EGL Genetic Diagnostics,Eurofins Clinical Diagnosticsnot provided17germlinenot providednot providednot provided
        GeneDxnot providednot providedgermlinenot providednot providednot providedThe c.441+1G>A variant in the …Full description
        Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostelanot providednot providedinheritednot providednot providednot providednot provided
        SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

        Last Updated: Sep 28, 2017