Hypothesis

92VHLE3c.499C>Tp.R167WPP7987306M9922Nobil-PCC,R- PGL5No

PatientID: 92

KindredID: 92

Case: M, 31Y0M, Chinese (East Asian)

DiseaseAssertion: Assumed VHL

FamilyInfo: No family history.

CasePresentingHPOs: Pheochromocytoma; Paraganglioma (HP:0002666; HP:0002668)

CaseHPOFreeText: retroperitoneal paraganglioma and bilateral pheochromocytoma, with a biggest tumor size of 5cm. Age of onset and diagnosis at 9Y. 22 years later they were confirmed with a genetic mutation

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: MAX, NF1, RET, SDHA, SDHB, SDHC, SDHD, SDHAF2, TMEM127

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.R167W (c.499C>T)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 2218, https://www.ncbi.nlm.nih.gov/clinvar/variation/2218/

CAID: N/A

gnomAD: 0.000007954, https://gnomad.broadinstitute.org/variant/3-10191506-C-T?dataset=gnomad_r2_1

VariantEvidence: Described as a pathogenic variant, according to the ACMG guidelines at the time of publication.

MutationType: missense_variant;transition

CivicName: R167W (c.499C>T)

MultipleGeneVariants: N/A

InheritancePattern:AutosomalDominant Mutation:Germline RefSeq:NM_000551.3 DiseaseEntity:pheochromocytoma DiseaseEntity:paraganglioma AgeOfPresentation:pheochromocytoma:9 AgeOfPresentation:paraganglioma:9 NonFamilial Ethnicity:Chinese Ethnicity:EastAsian CivicName:R167W(c.499C>T) cDNAposition:499 ProteinPosition:167 AminoAcidChange:ARGtoTRP MutationType:missense_variant;transition PreviousTesting:MAX/RET/NF1/SDHA/SDHB/SDHC/SDHD/SDHAF2/TMEM127 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation

Tags

Annotators

URL