Hypothesis

445delG

GroupID/ KindredID: 13

DiseaseAssertion: VHL

GroupSize: 3

GroupNumberMales: N/A

GroupNumberFemales: N/A

GroupEthnicity: Polish

GroupAgeRange: N/A

GroupInfo: Familial VHL stated; 3 family members recorded with this mutation.

GroupPresentingHPOs: HP:0009711; HP:0010797; HP:0005584 (retinal capillary hemangioma, hemangioblastoma; renal cell carcinoma)

GroupHPOFreeText: All 3 patients were tallied with a retinal capillary hemangiomas, 2 with cHemangioblastomas, and 1 with RCC. These phenotypes couldn’t be paired as it was not clear with each member.

GroupNotHPOs: N/A

GroupNotHPOFreeText: N/A

GroupPreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.A149Pfs*10 (c.445delG)

CaseProblemVariantFreeText: N/A

LegacyVariant: N/A

ClinVarID: N/A

CAID: CA432421902 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.445delG

gnomAD: N/A

VariantEvidence: N/A

MutationType: minus_1_frameshift_variant

CivicName: A149fs (c.445delG)

MultipleGeneVariants: N/A

DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:hemangioblastoma DiseaseEntity:renalcellcarcinoma Ethnicity:Polish Mutation:Germline AssumedRefSeq:NM_000551.3 ExperimentalAssay Familial FamilyCohort InheritancePattern:AutosomalDominant CAID:CA432421902 ClinVarID:N/A AminoAcidChange:ALAtoPRO cDNAposition:445 ProteinPosition:149 CivicName:A149fs(c.445delG) MutationType:minus_1_frameshift_variant inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation

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