2 Matching Annotations
  1. Last 7 days
  2. link.springer.com link.springer.com
    Somatic Mutation Analysis of the SDHB , SDHC , SDHD , and RET Genes in the Clinical Assessment of Sporadic and Hereditary Pheochromocytoma
    1
    1. ClingenBaseline 31 Oct 2026

      PatientID: 10

      KindredID: 10

      Case: F, 70Y0M, Ethnicity Unknown

      DiseaseAssertion: Adrenal pheochromocytoma

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0006748 (adrenal pheochromocytoma)

      CaseHPOFreeText: The patient was found to have multiple benign tumours 4 cm in size in her adrenal gland.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET/SDHC/SDHB/SDHD

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Y98H (c.292T>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVar: 2223 https://www.ncbi.nlm.nih.gov/clinvar/variation/2223/

      CAID: N/A

      gnomAD: 0.00001343 https://gnomad.broadinstitute.org/variant/3-10183823-T-C

      VariantEvidence: The patient had LOH of SDHD and VHL as indicated in Table 1.

      MutationType: missense_variant;transition

      CivicName: Y98H (c.292T>C)

      MultipleGeneVariants: Somatic, RET, c. 2307T>G

      InheritancePattern:AutosomalDominant DiseaseEntity:adrenalpheochromocytoma ageofpresentation:adrenalpheochromocytoma:70 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:292 CivicName:Y98H(c.292T>C) ProteinPosition:98 AminoAcidChange:TYRtoHIS MutationType:missense_variant;transition ClinVarID:2223 ClinVarID:Yes MultipleGeneVariants PreviousTesting:RET/SDHB/SDHD/SDHC NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    link.springer.com/article/10.1007/s12672-012-0113-y
  3. Oct 2026
  4. www.e-enm.org www.e-enm.org
    Genetic Analysis and Clinical Characteristics of Hereditary Pheochromocytoma and Paraganglioma Syndrome in Korean Population
    1
    1. ClingenBaseline 29 Oct 2026
      9 M/53 PCC VHL 1 c.208G>A (p.Glu70Lys) Pre-NGS Sanger Bilateral adrenal 3.5 Metastatic Yes Incidental Noradrenergic

      PatientID: 9

      KindredID: 9

      Case: M, 53Y0M, Korean

      DiseaseAssertion: Adrenal pheochromocytoma

      FamilyInfo: No information provided.

      CasePresentingHPOs: HP:0006748 (adrenal pheochromocytoma)

      CaseHPOFreeText: The patient presented with adrenal pheochromocytoma (see table 3).

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET, NF1, MAX, SDHA/SDHAF2/SDHB/SDHC/SDHD

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.E70K (c.208G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 43598, https://www.ncbi.nlm.nih.gov/clinvar/variation/43598/

      CAID: N/A

      gnomAD: 0.000004365, https://gnomad.broadinstitute.org/variant/3-10183739-G-A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: E70K (c.208G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:missense_variant;transition AssumedRefSeq:NM_000551.3 NoFamilyInfo Ethnicity:Korean DiseaseEntity:adrenalpheochromocytoma AgeOfPresentation:adrenalpheochromocytoma:53 ClinVarID:Yes ClinVarID:43598 PreviousTesting:RET/NF1/MAX/SDHA/SDHAF2/SDHB/SDHC/SDHD CivicName:E70K(c.208G>A) cDNAPosition:208 ProteinPosition:70 AminoAcidChange:GLUtoLYS inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    e-enm.org/journal/view.php