PatientID: A (Tumor 2)

KindredID: 1

Case: F, 57Y0M, Ethnicity Unknown

DiseaseAssertion: assumed VHL

FamilyInfo: This kindred with a VHL germline deletion was studied. Apparently inherited from her father and paternal grandmother as they were affected, and passed to daughter but no phenotypic data was provided for these familials. Her sister and nephew also presented with hemangioblastomas and this germline deletion, and further somatic details were studied.

CasePresentingHPOs: HP:0006880 (cerebellar hemangioblastoma)

CaseHPOFreeText: 2 cerebellar HB surgically resected at 57Y and found with somatic mutations in both tumors

CaseNotHPOs: N/A

CaseNotHPOFreeText: no VHL-associated visceral malignancies in the patient

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.K159E (c.475A>G)

LegacyVariant: c.8678 (p.Lys159Glu)

CaseProblemVariantFreeText: A somatic mutation in exon 3 (nt: c.8678 (p.Lys159Glu)) via Latif et al.’s (1993) old transcript) was used.

ClinVarID: 825149 https://www.ncbi.nlm.nih.gov/clinvar/variation/825149/

CAID: N/A

gnomAD: N/A

VariantEvidence: unspecified germline deletion as demonstrated by FISH analysis. “Second-hit” tumorigenesis displayed due to somatic mutation found, which was not predicted by the specific germline deletion nor by the overall genetic composition of the patient. Both of this patient’s cerebellar tumors had somatic mutations.

MutationType: missense_variant; transition

CivicName: Deletion

MultipleGeneVariants: Germline, VHL, deletion; Somatic, VHL, c.903_904insT (p.*151)