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. Northern blot, SSCP and RT-PCR analysis from normal tissue found a germline p.Q145Hfs*28 (c.435_436delGC) mutation, stated in the paper as c.648_649delGC due to an older transcript. It was seen in family [pedigree No] 9, with an unknown number of members described as ‘VHL-affected’ with RCC. Other manifestations are possible but not clear.

KindredID: 9

DiseaseAssertion: VHL

GroupSize: Unknown

GroupNumberMales: N/A

GroupNumberFemales: N/A

GroupEthnicity: N/A

GroupAgeRange: N/A

GroupInfo: This is a family belonging to prefigure No. 9. They are described as ‘VHL-affected’.

GroupPresentingHPOs: HP:0005584 (renal cell carcinoma)

GroupHPOFreeText: RCC-affected; other manifestations are possible but not clear.

GroupNotHPOs: N/A

GroupNotHPOFreeText: N/A

GroupPreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.Q145Hfs*28 (c.435_436delGC)

LegacyVariant: p.215fs (c.648_649delGC)

CaseProblemVariantFreeText: N/A

ClinVarID: 223210 https://www.ncbi.nlm.nih.gov/clinvar/variation/223210/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: minus_2_frameshift_variant

CivicName: Q145fs (c.435_436delGC)

MultipleGeneVariants: N/A