Tissue analysis from 61 VHL patients, 30 sporadic renal cell carcinoma (RCC) tumor samples, and 6 sporadic RCC cell lines revealed 22 variants within VHL patients, 10 variants in tumor samples and variants in all cell lines. All mutations cluster to the 3’ end of the VHL gene open reading frame, implicating this region as important for the tumor-suppressor function of the VHL protein. RT-PCR analysis in RCC cell lines found a p.D143Tfs*29 (c.426_430del) mutation, stated in the paper as c.639_642del4 due to an older transcript. It was seen in cell line A-498. Any family information or other manifestations apart from RCC were unclear.

PatientID: N/A

KindredID: A-498 (cell line)

Case: Sex Unknown, Age Unknown, Ethnicity Unknown

DiseaseAssertion: Renal cell carcinoma

FamilyInfo: N/A

CasePresentingHPOs: HP:0005584 (renal cell carcinoma)

CaseHPOFreeText: Described as sporadic RCC from cell line A-498

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.D143Tfs*29 (c.426_430del)

LegacyVariant: p.213fs (c.639_642del4)

CaseProblemVariantFreeText: N/A

ClinVarID: N/A

CAID: CA2573131758 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2573131758

gnomAD: N/A

VariantEvidence:N/A

MutationType: minus_1_frameshift_variant

CivicName: D143fs (c.426_430del)

MultipleGeneVariants: N/A