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: 1

KindredID: 1

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.I151S (c.452T>G)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 223215 https://www.ncbi.nlm.nih.gov/clinvar/variation/223215/

CAID: N/A

gnomAD: N/A

VariantEvidence: patient has a germline deletion of VHL gene demonstrated by loss of one open-reading frame signal detected by g7 cDNA probe. Renal cell carcinoma sample from this patient shows a missense somatic mutation I151S(c.452T>G) in the second copy of VHL gene.

MutationType: missense_variant; transversion

CivicName: Deletion AND I151S (c.452T>G)

MultipleGeneVariants: Germline, VHL, deletion

DiseaseEntity:renalcellcarcinoma Mutation:Somatic MutationType:missense_variant;transversion ClinVarID:223215 ClinVarID:Yes ProteinPosition:151 cDNAposition:452 AminoAcidChange:ILEtoSER NoFamilyInfo MultipleVHLVariants AssumedRefSeq:NM_000551.3 CivicName:DeletionANDI151S(c.452T>G) CivicName:I151S(c.452T>G) inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation

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