GroupID: 54

Case: Age unknown, Sex unknown, French

DiseaseAssertion: VHL

FamilyInfo: None - one member documented here

CasePresentingHPOs: N/A

CaseHPOFreeText: other manifestations are not clearly stated.

CaseNotHPOs: HP:0009711 (retinal capillary hemangioma)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.R205Hfs*50 (c.612_613delGC)

CaseProblemVariantFreeText: c.612_613delGC automaps to NM_000551.3:c.614_615delGC

LegacyVariant: N/A

ClinVarID: N/A

CAID: CA020525 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.612_613delGC

gnomAD: N/A

VariantEvidence: N/A

MutationType: minus_2_frameshift_variant

CivicName: R205fs (c.614_615delGC)

MultipleGeneVariants: N/A

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