Hypothesis

48EP 2.0PheoVHL({"type":"entrez-nucleotide","attrs":{"text":"NM_000551.4","term_id":"1779521775","term_text":"NM_000551.4"}}NM_000551.4):c.576delA (p.Asn193MetfsTer9)

PatientID: N/A (mother)

KindredID: 3

Case: F, 45Y0M, Ethnicity Unknown

DiseaseAssertion: Asymptomatic

FamilyInfo: Genetic screening was performed in her son who presented with hormonally active adrenal pheochromocytoma and the mutation.

CasePresentingHPOs: N/A

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: screening for VHL-associated manifestation showed no VHL-related manifestations.

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: Yes

Variant: p.N193Mfs*9 (c.576delA)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: N/A

CAID: CA432423740 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.576delA

gnomAD: N/A

VariantEvidence: Described by authors as likely pathogenic.

MutationType: minus_1_frameshift_variant

CivicName: N193fs (c.576delA)

MultipleGeneVariants: N/A

InheritancePattern:AutosomalDominant Mutation:Germline RefSeq:NM_000551.4 DiseaseEntity:asymptomatic SupplementalData AminoAcidChange:ASNtoMET ProteinPosition:193 cDNAposition:576 CivicName:N193fs(c.576delA) MutationType:minus_1_frameshift_variant CAID:CA432423740 ClinVarID:N/A Familial inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation

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