Hypothesis

Germline mutations were identified in 300/469 (63%) of the families tested; 137 distinct intragenic germline mutations were detected.

GroupID/ KindredID: 16BMS

DiseaseAssertion: VHL

GroupSize: N/A

GroupNumberMales: N/A

GroupNumberFemales: N/A

GroupEthnicity: N/A

GroupAgeRange: N/A

GroupInfo: This germline familial VHL mutation was taken from the Bristol Myers Squibb database, with an unknown number of members belonging to Family ID 16BMS. Table 3 lists all ID and mutations associated with individuals possessing renal carcinoma, without pheochromocytoma.

GroupPresentingHPOs: HP:0005548 (renal cell carcinoma)

GroupHPOFreeText: Described as a VHL family with RCC, without pheochromocytoma. Other phenotypes are likely, however not detailed in this publication

GroupNotHPOs: HP:0002666 (pheochromocytoma)

GroupNotHPOFreeText: N/A

GroupPreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.G93Afs*66 (c.277delG)

LegacyVariant: FS (c.490delG)

CaseProblemVariantFreeText: NM_000551.3:c.277delG automaps to NM_000551.3:c.278delG due to redundancy

ClinVarID: 428811 https://www.ncbi.nlm.nih.gov/clinvar/variation/428811/

CAID: N/A

gnomAD: N/A

VariantEvidence: This paper declares this variant is predicted to compromise the Elongin-binding site by truncating the protein.

MutationType: minus_1_frameshift_variant

CivicName: G93fs (c.277delG)

MultipleGeneVariants: N/A

InheritancePattern:AutosomalDominant Mutation:Germline DiseaseEntity:renalcellcarcinoma RefSeq:AF010238.1 cDNAposition:277 ProteinPosition:93 MutationType:minus_1_frameshift_variant CivicName:G93fs(c.277delG) ClinVarID:428811 ClinVarID:Yes Familial FamilyCohort inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation

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