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NM_003002.3(SDHD):c.112C>T (p.Arg38Ter)

Variation ID: Help
6893
Review status: Help
criteria provided, multiple submitters, no conflicts2 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_003002.3(SDHD):c.112C>T (p.Arg38Ter)

Allele ID:
21932
Variant type:
single nucleotide variant
Cytogenetic location:
11q23.1
Genomic location:
  • Chr11: 112087916 (on Assembly GRCh38)
  • Chr11: 111958640 (on Assembly GRCh37)
Other names:
  • p.Arg38X
Protein change:
R38*
HGVS:
  • NG_012337.3:g.6070C>T
  • NM_001276504.1:c.53-951C>T
  • NM_003002.2:c.112C>T
  • NM_003002.3:c.112C>T
  • NP_002993.1:p.Arg38Ter
  • NC_000011.10:g.112087916C>T (GRCh38)
  • NR_077060.1:n.196C>T
  • NC_000011.9:g.111958640C>T (GRCh37)
  • NG_012337.2:g.6070C>T
  • NM_003002.1:c.112C>T
Links:
NCBI 1000 Genomes Browser:
rs80338843
Molecular consequence:
  • NM_001276504.1:c.53-951C>T: intron variant SO:0001627
  • NM_003002.3:c.112C>T: nonsense SO:0001587
  • NR_077060.1:n.196C>T: non-coding transcript variant SO:0001619

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
(Nov 13, 2017)
criteria provided, single submitter
clinical testinggermlineInvitaeSCV000287812.3
Pathogenic
(Sep 28, 2018)
criteria provided, single submitter
clinical testinggermline
    GeneDxSCV000568552.4
    Pathogenic
    (Oct 27, 2017)
    criteria provided, single submitter
    clinical testing
    • Hereditary cancer-predisposing syndrome[MedGen]
    germlineAmbry GeneticsSCV000581231.3
    Pathogenic
    (Mar 1, 2017)
    criteria provided, single submitter
    clinical testing
    • Hereditary Paraganglioma-Pheochromocytoma Syndromes (Autosomal dominant inheritance)[MedGen | Orphanet]
    germlineLaboratory for Molecular Medicine,Partners HealthCare Personalized MedicineSCV000731539.1
    Pathogenic
    (May 9, 2002)
    no assertion criteria providedliterature onlygermlineOMIMSCV000027492.3
    Pathogenic
    (May 9, 2002)
    no assertion criteria providedliterature onlygermlineOMIMSCV000027493.3
    Pathogenic
    (Aug 30, 2012)
    no assertion criteria providedcuration
    • Hereditary Paraganglioma-Pheochromocytoma Syndromes[MedGen | Orphanet]
    not providedGeneReviewsSCV000040975.1
    Pathogenicno assertion criteria providedresearch
    • Hereditary Paraganglioma-Pheochromocytoma Syndromes[MedGen | Orphanet]
    germline
      Section on Medical Neuroendocrinolgy,National Institutes of HealthSCV000599535.1
      SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
      Total for all submitters12germline, not providednot providednot provided
      Ambry Geneticsnot provided1germlinenot providednot providedLines of evidence used in supp…Full description
      GeneDxnot providednot providedgermlinenot providednot providednot providedThis variant is denoted SDHD c…Full description
      GeneReviewsnot providednot providednot providednot providednot providedConverted during submission to…Full description
      Invitaenot providednot providedgermlinenot providednot providedThis sequence change creates a…Full description
      Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine11germlinenot providednot providedThe p.Arg38X variant in SDHD h…Full description
      OMIMnot providednot providedgermlinenot providednot providednot provided
      Section on Medical Neuroendocrinolgy,National Institutes of Healthnot providednot providedgermlinenot providednot providednot providednot provided
      SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

      Last Updated: May 19, 2019

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