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  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Management of Gene Variants of Unknown Significance: Analysis Method and Risk Assessment of the VHL Mutation p.P81S (c.241C>T)
    2
    1. ClingenBaseline 06 Nov 2026

      PatientID: None

      KindredID: 1

      Case: M, 2Y0M, Danish

      DiseaseAssertion:Asymptomatic

      FamilyInfo: The patient's father had the p.P2P VHL mutation as well as another VHL mutation (p.P81S) and presented with renal cell carcinoma. The patient's uncles had this p.P81S mutation but were both asymptomatic. The patient's paternal grandmother also had this mutation and had breast cancer. See Figure 1 for family pedigree.

      CasePresentingHPOs: N/A

      CaseHPOFreeText:N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.P2= (c.6C>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 456593 https://www.ncbi.nlm.nih.gov/clinvar/variation/456593/

      CAID: N/A

      gnomAD: 0.000 https://gnomad.broadinstitute.org/variant/3-10183537-C-G

      VariantEvidence: N/A

      MutationType: synonymous_variant

      CivicName: P2= (c.6C>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:asymptomatic Ethnicity:Danish Familial FamilyPedigree CivicName:P2=(c.6C>G) Mutation:Germline ProteinPosition:2 cDNAposition:6 AminoAcidChange:PROtoPRO MutationType:missense_variant;transversion ClinVarID:456593 ClinVarID:Yes MutationType:synonymous_variant AssumedRefSeq:NM_000551.3 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 02 Nov 2026
      along with a silent mutation p.P2P (c.6C>G) in the VHL gene

      PatientID: None

      KindredID: 1

      Case: M, 31Y0M, Danish

      DiseaseAssertion: VHL

      FamilyInfo: The patient's brother carried the mutation. The proband’s paternal uncle died from metastasizing RCC at 46 years of age, and the proband’s father died from urosepsis in relation to bladder cancer in situ at the age of 56. Neither of these men were able to undergo genetic testing. The patient's mother was found to carry the mutation and had breast cancer. The maternal grandmother as well as a half brother were found to harbour the mutation but were asymptomatic. The proband's child was found to have a different VHL mutation (p.P2P). See Figure 1 for family pedigree.

      CasePresentingHPOs: HP:0005584 (renal cell carcinoma)

      CaseHPOFreeText: The patient presented with renal cell carcinoma at age 29.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.P2= (c.6C>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 456593 https://www.ncbi.nlm.nih.gov/clinvar/variation/456593/

      CAID: N/A

      gnomAD: 0.000 https://gnomad.broadinstitute.org/variant/3-10183537-C-G

      VariantEvidence: N/A

      MutationType: synonymous_variant

      CivicName: P2=(c.6C>G) and P81S(c.241C>T)

      MultipleGeneVariants: Germline, VHL, c.241C>T (p.Pro81Ser)

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL Ethnicity:Danish AssumedRefSeq:NM_000551.3 Familial FamilyPedigree AgeOfPresentation:renalcellcarcinoma:29 DiseaseEntity:renalcellcarcinoma ClinVarID:456593 ClinVarID:Yes MultipleVHLVariants MutationType:synonymous_variant cDNAposition:6 AminoAcidChange:PROtoPRO ProteinPosition:2 CivicName:P2=(c.6C>G)andP81S(c.241C>T) inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC5321774/