Hypothesis

171Yes101015b––Partial deletion–Rearrangement–

GroupID: None

KindredID: 17

DiseaseAssertion: VHL

GroupSize: 10

GroupNumberMales: N/A

GroupNumberFemales: N/A

GroupEthnicity: American Admixed /Latino

GroupAgeRange: N/A

GroupInfo: 10 members of a South American family expressed this c.183C>G mutation.

GroupPresentingHPOs: HP:0010797, HP:0009711, HP:0005584 (hemangioblastoma, retinal capillary hemangioma, renal cell carcinoma)

GroupHPOFreeText: All 10 family members had a central nervous system hemangioblastoma. One also had a retinal angioma. Five had renal carcinoma. One patient per family with renal tumour <3 cm under follow up detected by imaging.

GroupNotHPOs: HP:0002894, HP:0002666 (neoplasm of the pancreas, pheochromocytoma )

GroupNotHPOFreeText: N/A

GroupPreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: P61= (183C>G)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 135951 https://www.ncbi.nlm.nih.gov/clinvar/variation/135951/

CAID: N/A

gnomAD: 0.0009632 https://gnomad.broadinstitute.org/variant/3-10183714-C-G

VariantEvidence: N/A

MutationType: synonymous_variant

CivicName: P61=(c.183C>G)

MultipleGeneVariants: Germline, VHL, Partial Deletion

Familial Ethnicity:AmericanAdmixed/Latino InheritancePattern:AutosomalDominant AssumedRefSeq:NM_000551.3 DiseaseEntity:hemangioblastoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcellcarcinoma DiseaseEntity:VHL ClinVarID:135951 AminoAcidChange:PROtoPRO MutationType:synonymous_variant CivicName:P61=(c.183C>G) cDNAposition:183 ProteinPosition:61 MultipleVHLVariants Mutation:Germline ClinVarID:Yes FamilyCohort inferred_gene_hgnc:17084 inferred_gene_source:ClinVar VHL Hypothesis Annotation

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