Hypothesis

PatientID: 10

KindredID: 10

Case: 39Y0M, Sex and Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo: Recorded as a familial tumor; one other family info present (Patient ID: 9) who is a 47 year old patient with an abdominal paraganglioma

CasePresentingHPOs: HP:0002666 (pheochromocytoma)

CaseHPOFreeText: Unilateral pheochromocytoma reported with an age at diagnosis of 39 years of age.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: RET, SDHB/SDHC/SDHD

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.Q164H (c.492G>C)

CaseProblemVariantFreeText: Paper stated this as c.491G>C; p.Q164H. cDNA position of 492 is most likely correct and matches up. Error by authors to say c.491.

LegacyVariant: N/A

ClinVarID: 618485 https://www.ncbi.nlm.nih.gov/clinvar/variation/618485/

CAID: N/A

gnomAD: 0.000007954 https://gnomad.broadinstitute.org/variant/3-10191499-G-C

VariantEvidence: N/A

MutationType: missense_variant; transversion

CivicName: Q164H (c.492G>C)

MultipleGeneVariants: N/A

InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma AgeOfPresentation:pheochromocytoma:39 Mutation:Germline AssumedRefSeq:NM_000551.3 ProteinPosition:164 AminoAcidChange:GLNtoHIS CivicName:Q164H(c.492G>C) cDNAposition:492 MutationType:missense_variant;transversion ClinVarID:618485 EvidenceStatement PreviousTesting:RET PreviousTesting:SDHB PreviousTesting:SDHC PreviousTesting:SDHD Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation

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