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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Pathogenicity of VHL variants in families with non-syndromic von Hippel-Lindau phenotypes: An integrated evaluation of germline and somatic genomic results
    1
    1. ClingenBaseline 11 Nov 2026
      p.Y98H

      PatientID: 2

      KindredID: B

      Case: F, 82Y0M (deceased), Ethnicity Unknown

      DiseaseAssertion: papillary urothelial carcinoma

      FamilyInfo: Positive: The patient’s mother had colon cancer at 66Y and passed away at 67Y. The maternal uncle, cousin, and grandfather all had cancers: prostate, prostate and lung, and colon cancer, respectively. No genetic testing was done for these members, however, no known VHL-related tumors reported in the family. See Fig. 3.

      CasePresentingHPOs: HP:0003319; HP:0030409 (abnormality of the cervical spine; renal transitional cell carcinoma)

      CaseHPOFreeText: She presented originally in 2009 at 72Y to genetics due to personal and family history of cancer: cervical cancer at age 41 (treated surgically). At age 79, presented with pelvic pain (as invasive high-grade papillary urothelial carcinoma). She died in 2019 (age 82Y) due to her cancer.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: Imaging of her brain, spine, and abdomen via MRI and PET CT in 2019 found no brain, spine, kidney or adrenal gland lesions consistent with VHL-related neoplasms.

      CasePreviousTesting: MAX/NF1/RET/SDHA/SHDB/SHDC/SDHD/SDHAF2/TMEM127 [133 genes evaluated by germline testing - Invitae]

      PreviouslyPublished: N/A

      SupplementalData: Yes

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

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 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: N/A

      MutationType: missense_variant; transition

      CivicName: Y98H (c.292T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:abnormalityofthecervicalspine DiseaseEntity:renaltransitionalcellcarcinoma AgeOfPresentation:abnormalityofthecervicalspine:41 AgeOfPresentation:renaltransitionalcellcarcinoma:79 cDNAposition:292 CivicName:Y98H(c.292T>C) ProteinPosition:98 AminoAcidChange:TYRtoHIS MutationType:missense_variant;transition ClinVarID:2223 ClinVarID:Yes SupplementalData Familial PreviousTesting:MAX/RET//NF1/SDHA/SDHB/SDHC/SDHD/SDHAF2/TMEM127 MultipleVHLVariants FamilyPedigree inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/34628056/