Case: P82, Chinese, female, 80yo

DiseaseAssertion: VWD2M

FamilyInfo: NA

ParentalGenotype(s): NA

CasePresentingHPOs: HP:0012147

(Reduced quantity of VWF)

CaseHPOFreeText: type AB blood, bleeding score = 10; VWF:Ag (%) = 15.6, VWF:RCo (%) = 2.7, FVIII:C (%) = 50.8, VWF:CB (%) = 14.9, VWFpp (%) = 13.6, VWF:RCo/VWF:Ag = 0.2, VWF:CB/VWF:Ag = 1.0, VWFpp/VWF:Ag = 0.9, FVIII:C/VWF:Ag = 3.3

CaseNOTHPOs:

CaseNOTHPOFreeText:

CasePreviousTesting: NA

GenotypingMethod: NGS

PreviouslyPublished: NA

Gene: VWF

Variant 1: c.3365C>T (p.Thr1122Met)

HGVS: NM_000552.4(VWF):c.3365C>T (p.Thr1122Met)

ClinVarID: 453122; https://www.ncbi.nlm.nih.gov/clinvar/variation/453122/

CAID: NA

gnomAD: MAF = 0.003169 (63/19880 alleles) in the East Asian population; https://gnomad.broadinstitute.org/variant/12-6132811-G-A?dataset=gnomad_r2_1

Variant 2: c.3895del

HGVS: NM_000552.5:c.3895del

ClinVarID: NA

CAID: CA603482918; http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA603482918

gnomAD: MAF = 0.00009925 (1/10076 alleles) in Ashkenazi Jewish population; https://gnomad.broadinstitute.org/variant/12-6128686-CA-C

Variant 3: c.5668G>A (p.Gly1890Arg)

HGVS: NM_000552.4(VWF):c.5668G>A (p.Gly1890Arg)

ClinVarID: 672096; https://www.ncbi.nlm.nih.gov/clinvar/variation/627096/

CAID: NA

gnomAD: MAF = 0.00006559 (1/15246 alleles) in European (non-Finnish) population; https://gnomad.broadinstitute.org/variant/12-6120957-C-T?dataset=gnomad_r2_1

Variant 4: c.6424C>T (p.Leu2142Phe)

HGVS: NM_000552.5(VWF):c.6424C>T (p.Leu2142Phe)

ClinVarID: 988881; https://www.ncbi.nlm.nih.gov/clinvar/variation/988881/

CAID: NA

gnomAD: absent