Hypothesis

115 21 c.412C>A p.Pro138Thr x x Familial Father, siblings, and cousins Yes

PatientID: 115

KindredID: 115

Case: Sex Unknown, 21Y0M, Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo: Proband and father were found to carry the P138T (c.412C>A) germline mutation of the VHL gene. Father, siblings and cousins were analyzed but no phenotype information was provided for these family members. Genotype information for siblings and cousins was not provided.

CasePresentingHPOs: HP:0002666; HP:0009711 (Pheochromocytoma, Retinal capillary hemangioma)

CaseHPOFreeText: N/A

CaseNotHPOs: HP:0000107; HP:0006770; HP:0010797; HP:0001732 (Renal cyst, Clear cell renal cell carcinoma, Hemangioblastoma, Abnormality of the pancreas)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: Table S1, S2 and S3

Variant: p.P138T (c.412C>A)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: N/A

CAID: CA16621932, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.412C%3EA

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transversion

CivicName: P138T (c.412C>A)

MultipleGeneVariants: N/A

InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma DiseaseEntity:retinalcapillaryhemangioma Mutation:Germline RefSeq:NM_000551.3 cDNAposition:412 ProteinPosition:138 AminoAcidChange:PROtoTHR ClinVarID:N/A CAID:CA16621932 MutationType:missense_variant;transversion CivicName:P138T(c.412C>A) Familial SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation

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