Hypothesis

along with a silent mutation p.P2P (c.6C>G) in the VHL gene

PatientID: None

KindredID: 1

Case: M, 31Y0M, Danish

DiseaseAssertion: VHL

FamilyInfo: The patient's brother carried the mutation. The proband’s paternal uncle died from metastasizing RCC at 46 years of age, and the proband’s father died from urosepsis in relation to bladder cancer in situ at the age of 56. Neither of these men were able to undergo genetic testing. The patient's mother was found to carry the mutation and had breast cancer. The maternal grandmother as well as a half brother were found to harbour the mutation but were asymptomatic. The proband's child was found to have a different VHL mutation (p.P2P). See Figure 1 for family pedigree.

CasePresentingHPOs: HP:0005584 (renal cell carcinoma)

CaseHPOFreeText: The patient presented with renal cell carcinoma at age 29.

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) and P81S(c.241C>T)

MultipleGeneVariants: Germline, VHL, c.241C>T (p.Pro81Ser)

InheritancePattern:AutosomalDominant DiseaseEntity:VHL Ethnicity:Danish AssumedRefSeq:NM_000551.3 Familial FamilyPedigree AgeOfPresentation:renalcellcarcinoma:29 DiseaseEntity:renalcellcarcinoma ClinVarID:456593 ClinVarID:Yes MultipleVHLVariants MutationType:synonymous_variant cDNAposition:6 AminoAcidChange:PROtoPRO ProteinPosition:2 CivicName:P2=(c.6C>G)andP81S(c.241C>T) inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation

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