Hypothesis

Loss of heterozygosity of the second VHL allele can be consistently demonstrated in tumor tissue from these patients, suggesting that allelic deletion is a very early or even initiating event for tumorigenesis.

PatientID: 3

KindredID: 3

Case: Sex Unknown, Age Unknown, Ethnicity Unknown

DiseaseAssertion: renal cell carcinoma

FamilyInfo: None

CasePresentingHPOs: HP:0005584 (renal cell carcinoma)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.R69C (c.205C>T)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 1059402 https://www.ncbi.nlm.nih.gov/clinvar/variation/1059402/

CAID: N/A

gnomAD: N/A

VariantEvidence: germline deletion on chromosome 3 (>35kb, <90kb) resulting in complete loss of VHL gene. Renal cell carcinoma sample from this patient shows a missense somatic mutation R69C(c.205C>T) in the second copy of VHL gene.

MutationType: missense_variant; transition

CivicName: Deletion AND R69C (c.205C>T)

MultipleGeneVariants: Germline, VHL, Gene deletion

DiseaseEntity:renalcellcarcinoma Mutation:Somatic MutationType:missense_variant;transition ClinVarID:1059402 ClinVarID:Yes ProteinPosition:69 AminoAcidChange:ARGtoCYS cDNAposition:205 NoFamilyInfo AssumedRefSeq:NM_000551.3 MultipleVHLVariants CivicName:DeletionANDR69C(c.205C>T) CivicName:R69C(c.205C>T) inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation

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