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NM_001540.4(HSPB1):c.383A>G (p.Gln128Arg)

Variation ID: Help
360738
Review status: Help
criteria provided, conflicting interpretations1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Conflicting interpretations of pathogenicity
Likely pathogenic(1);Uncertain significance(3)
Last evaluated:
Jun 22, 2018
Number of submission(s):
4
Condition(s):
See supporting ClinVar records

Allele(s) Help

NM_001540.4(HSPB1):c.383A>G (p.Gln128Arg)

Allele ID:
311681
Variant type:
single nucleotide variant
Cytogenetic location:
7q11.23
Genomic location:
  • Chr7: 76303820 (on Assembly GRCh38)
  • Chr7: 75933137 (on Assembly GRCh37)
Protein change:
Q128R
HGVS:
  • NG_008995.1:g.6263A>G
  • NM_001540.4:c.383A>G
  • NP_001531.1:p.Gln128Arg
  • NC_000007.14:g.76303820A>G (GRCh38)
  • LRG_248t1:c.383A>G
  • NC_000007.13:g.75933137A>G (GRCh37)
  • NM_001540.3:c.383A>G
  • LRG_248p1:p.Gln128Arg
  • LRG_248:g.6263A>G
Links:
NCBI 1000 Genomes Browser:
rs558882005
Molecular consequence:
NM_001540.4:c.383A>G: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • GMAF 0.00020 (G)
  • ExAC 0.00007 (G)

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
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
clinical testinggermline
    Illumina Clinical Services Laboratory,IlluminaSCV000470064.2
    Uncertain significance
    (Jun 14, 2016)
    criteria provided, single submitter
    clinical testing
    • Distal hereditary motor neuronopathy[MedGen]
    germline
      Illumina Clinical Services Laboratory,IlluminaSCV000470065.2
      Likely pathogenic
      (Feb 2, 2017)
      criteria provided, single submitter
      clinical testing
      • Distal hereditary motor neuronopathy type 2B[MedGen | OMIM]
      inherited
        Biochimie - Maladies Neurologiques Hereditaires,Hospices Civils de LyonSCV000804564.1
        Uncertain significance
        (Jun 22, 2018)
        criteria provided, single submitter
        clinical testinggermlineInvitaeSCV000834372.1
        SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
        Total for all submittersnot providednot providedgermline, inheritednot providednot provided
        Biochimie - Maladies Neurologiques Hereditaires,Hospices Civils de Lyonnot providednot providedinheritednot providednot providednot providednot provided
        Illumina Clinical Services Laboratory,Illuminanot providednot providedgermlinenot providednot providednot providednot provided
        Invitaenot providednot providedgermlinenot providednot providedThis sequence change replaces …Full description
        SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

        Last Updated: Oct 13, 2018