PatientID: None

KindredID: 5

Case: F, 58Y0M, Ethnicity Unknown

DiseaseAssertion: Clear Cell Renal Cell Carcinoma

FamilyInfo: N/A

CohortInfo: The National Cancer Institute has a frozen tumour bank of ccRCC tumours that have been removed from VHL patients. We selected six patients, three males and three females, with at least five tumours from a single surgery from one kidney.

CasePresentingHPOs: HP:0006770 (clear cell renal cell carcinoma)

CaseHPOFreeText: The patient presented with ccRCC at age 58.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.T105Rfs*54(c.314delC)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: N/A

CAID: CA432420540 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.314delC

gnomAD: N/A

VariantEvidence: N/A

MutationType: minus_1_frameshift_variant

CivicName: T105Rfs*54(c.314delC)

MultipleGeneVariants: N/A

The National Cancer Institute has a frozen tumour bank of ccRCC tumours that have been removed from VHL patients. Illumina's Human Whole-Genome Sequencing service was used to sequence blood, tumour tissue, and normal kidney tissue. One 58Y female patient with ccRCC was confirmed with a germline deletion (c.314delC) in the VHL gene. No family history or other phenotype was provided.