Hypothesis

His father had died as a complication of metastatic renal carcinoma.

PatientID: N/A (father)

KindredID: 1

Case: M, Age Unknown (deceased), South Asian (Saudi)

DiseaseAssertion: assumed VHL

FamilyInfo: History of family showed that his 4/8 children tested positive for the 384delT mutation. suggesting that he likely passed it onto them. One son (case) presented with adrenal pheochromocytoma, pancreatic cysts, and renal cell carcinoma.

CasePresentingHPOs: HP:0005584 (renal cell carcinoma)

CaseHPOFreeText: He died as a complication of metastatic renal carcinoma.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.L129Trpfs*30 (c.384delT) [assumed]

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: N/A

CAID: CA70049452 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.384delT

gnomAD: N/A

VariantEvidence: N/A

MutationType: minus_1_frameshift_variant

CivicName: N/A

MultipleGeneVariants: N/A

InheritancePattern:AutosomalDominant Ethnicity:SouthAsian DiseaseEntity:renalcellcarcinoma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:384 ProteinPosition:129 AminoAcidChange:LEUtoTHR CivicName:N/A MutationType:minus_1_frameshift_variant CAID:CA70049452 ClinVarID:N/A Familial inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation

Tags

Annotators

URL