Hypothesis

770FemaleIV# YesAAAGAGLOH (G)

PatientID: 7

KindredID: 7

Case: F, 70Y0M, Taiwanese (East-Asian)

DiseaseAssertion: renal cell carcinoma

FamilyInfo: N/A

CohortInfo: 8 of 19 patients presenting with clear cell renal cell carcinoma were found to be heterozygous for the germline variant rs1642742 in VHL (c.*294G>A). All but one of these patients (7/8) also presented with the germline variant rs779805 (c.-195G>A) in VHL.

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

CaseHPOFreeText: She had stage IV clear cell renal cell carcinoma with metastasis

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: 21982469

SupplementalData: Yes - Additional file 1: Figure S1

Variant: c.*294G>A

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 342407 https://www.ncbi.nlm.nih.gov/clinvar/variation/342407/

CAID: N/A

gnomAD: 0.5911 https://gnomad.broadinstitute.org/variant/3-10191943-G-A

VariantEvidence: LOH (G) of this mutation was found in the tumor tissue as well

MutationType: 3_prime_UTR_variant

CivicName: c.-195G>A AND c.*294G>A

MultipleGeneVariants: Somatic, VHL, c.-195G>A

InheritancePattern:AutosomalDominant Ethnicity:Taiwanese Ethnicity:EastAsian DiseaseEntity:clearcellrenalcellcarcinoma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:294 MutationType:3_prime_UTR_variant CivicName:c.*294G>A ClinVarID:342407 MultipleVHLVariants SupplementalData NoFamilyInfo ClinVarID:Yes CivicName:c.-195G>AANDc.*294G>A inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation

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