PatientID: 3

KindredID: 1

Case: F, 49Y0M, Ethnicity Unknown

DiseaseAssertion: pheochromocytoma

FamilyInfo: N/A - Not mentioned

CasePresentingHPOs: HP:0006748 (adrenal pheochromocytoma)

CaseHPOFreeText: Unilateral, benign adrenal pheo (3cm) tumor was analysed. This patient underwent surgical resection.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.214Gext 14 (c.640T>G)

LegacyVariant: p.X>Gly+14AA (c.852T>G)

CaseProblemVariantFreeText: Stated in the paper with AF010238.1:p.X>Gly+14AA (c.852T>G); Sanger sequencing (Fig. 1), displays this should be p.X>Gly+14AA (c.853T>G), which translates to p.214Gext14 (c.640T>G).

ClinVarID: N/A

CAID: CA351756720 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.640T%3EG

gnomAD: N/A

VariantEvidence: LOH was observed

MutationType: missense_variant;transversion; stop_lost

CivicName: *214G (c.640T>G)

MultipleGeneVariants: N/A

PatientID: 16

KindredID: 16

Case: M, 20Y0M, Ethnicity Unknown

DiseaseAssertion: Adrenal pheochromocytoma

FamilyInfo: N/A

CasePresentingHPOs: HP:0006748 (adrenal pheochromocytoma)

CaseHPOFreeText: The patient was found to have multiple benign tumour 1 cm in size in his adrenal gland.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: RET/SDHC/SDHB/SDHD

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.*214G(c.640T>G)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: N/A

CAID: CA351756720 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.640T%3EG

gnomAD: N/A

VariantEvidence: The patient had LOH of VHL, SDHB, SDHC, and SDHD as indicated by Table 1.

MutationType: stop_lost

CivicName: *214G(c.640T>G)

MultipleGeneVariants: Somatic, RET, c.2307T>G