Hypothesis

present on the allele inherited from his healthy mother (II.2).

PatientID: II.2

KindredID: 3

Case: F, Age Unknown, Ethnicity Unknown

DiseaseAssertion: Asymptomatic

FamilyInfo: The patient passed down this mutation to her son (III.1) who was hemizygous for the VHL gene and presented with pancreatic cysts, retinal capillary hemangioma, and cerebellar hemangioblastoma. Her husband (II.1) had two different VHL mutations and presented with hemangioblastoma and pancreatic cysts. Refer to figure 1, pedigree C for family information.

CohortInfo: Patients were registrants from the European-American Pheochromocytoma-Paraganglioma and German von Hippel-Lindau Disease Registries.

CasePresentingHPOs: N/A

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: RET/SDHB/SDHD/SDHC

PreviouslyPublished: May have been previously published in 11106358 and/or 7563486.

SupplementalData: Yes, File 1 for methods.

Variant: c.340+5G>C

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 36901 https://www.ncbi.nlm.nih.gov/clinvar/variation/36901/

CAID: N/A

gnomAD: 0.01119 https://gnomad.broadinstitute.org/variant/3-10183876-G-C

VariantEvidence: N/A

MutationType:splice_site_variant

CivicName: Splice Region (c.340+5G>C)

MultipleGeneVariants: N/A

InheritancePattern:AutosomalDominant CivicName:Splice Region(c.340+5G>C) Mutation:Germline DiseaseEntity:asymptomatic ClinVarID:36901 ClinVarID:Yes PreviousTesting:RET/SDHB/SDHD/SDHC Familial FamilyPedigree RefSeq:NM_000551.3 SupplementalData AminoAcidChange:N/A ProteinPosition:N/A cDNAposition:340 MutationType:splice_site_variant ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation

Tags

Annotators

URL