Hypothesis

PatientID: None

KindredID: 1

Case: M, 2Y0M, Danish

DiseaseAssertion:Asymptomatic

FamilyInfo: The patient's father had the p.P2P VHL mutation as well as another VHL mutation (p.P81S) and presented with renal cell carcinoma. The patient's uncles had this p.P81S mutation but were both asymptomatic. The patient's paternal grandmother also had this mutation and had breast cancer. See Figure 1 for family pedigree.

CasePresentingHPOs: N/A

CaseHPOFreeText:N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.P2= (c.6C>G)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 456593 https://www.ncbi.nlm.nih.gov/clinvar/variation/456593/

CAID: N/A

gnomAD: 0.000 https://gnomad.broadinstitute.org/variant/3-10183537-C-G

VariantEvidence: N/A

MutationType: synonymous_variant

CivicName: P2= (c.6C>G)

MultipleGeneVariants: N/A

InheritancePattern:AutosomalDominant DiseaseEntity:asymptomatic Ethnicity:Danish Familial FamilyPedigree CivicName:P2=(c.6C>G) Mutation:Germline ProteinPosition:2 cDNAposition:6 AminoAcidChange:PROtoPRO MutationType:missense_variant;transversion ClinVarID:456593 ClinVarID:Yes MutationType:synonymous_variant AssumedRefSeq:NM_000551.3 inferred_gene_hgnc:1090 inferred_gene_source:ClinVar VHL Hypothesis Annotation

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