PatientID: None

KindredID: 3

Case: F, 18Y0M, Ethnicity Unknown

DiseaseAssertion: assumed VHL

FamilyInfo: N/A

CasePresentingHPOs: HP:0002666; HP:0030405 (pheochromocytoma; pancreatic endocrine tumor)

CaseHPOFreeText: patient had a bilateral pheochromocytoma and PNETs

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: RET/ SDHB/ SDHD/ SDHC

PreviouslyPublished: 23397066

SupplementalData: N/A

Variant: c.463+3A>G

LegacyVariant: c.IVS2+3A>G

CaseProblemVariantFreeText: N/A

ClinVarID: 428796 https://www.ncbi.nlm.nih.gov/clinvar/variation/428796/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: splice_site_variant

CivicName: Splice Region (c.463+3A>G)

MultipleGeneVariants: N/A

PatientID: VHL 11

KindredID: VHL 11

Case: Sex, Age, Ethnicity unknown

DiseaseAssertion: hemangioblastoma

FamilyInfo: N/A

CasePresentingHPOs: HP:0010797 (hemangioblastoma)

CaseHPOFreeText: Three samples of VHL hemangioblastomas were represented here (.1, .2, .3). They are recorded as both germline and somatic, involving the VHL- and C3ORF10-gene.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A - This sample was likely duplicated in 24132471

SupplementalData: Yes - See Supplementary Table 1

Variant: c.463+3A>C

LegacyVariant: N/A

CaseProblemVariantFreeText: Supplemental data records this as a c.463+3A>C (p.(?)) mutation. The only time the text mentions a splice site mutation however is at: c.463+2T>C p.(?). Will go by supplemental data but be cautious of this discrepancy.

ClinVarID: N/A

CAID: CA645525016 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.463%2B3A%3EC

gnomAD: N/A

VariantEvidence: N/A

MutationType: splice_site_variant

CivicName: Splice Region (c.463+3A>C) 

MultipleGeneVariants: N/A