4 Matching Annotations
  1. Oct 2026
  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Clinical, Phenotypic and Genotypic Characteristics of Von Willebrand Disease in Afro-Caribbeans: Results From a Study in Martinique Island, French West Indies
    4
    1. ClingenBaseline 23 Oct 2026
      33 K

      Case: Patient 33, Family K (Table 1.), F/49, Afro-Caribbean

      DiseaseAssertion: VWD2A (IIE)

      FamilyInfo: Patient 18 (F/53, Afro-Caribbean), Patient 29 (F/33, Afro-Caribbean), Patient 32 (F/17, Afro-Caribbean) also from Family K. (Table 1.)

      ParentalGenotype(s): NA

      CasePresentingHPOs:

      CaseHPOFreeRext: BAT =17, FVIII:C (IU/dL) = 3, VWF:Ag (IU/dL) = 3, VWF:Act (IU/dL) = 7

      CaseNOTHPOs:

      CaseNOTHPOFreeText: Blood type A+

      CasePreviousTesting:

      GenotypingMethod: All samples were analyzed by captured-based high throughput sequencing which was performed with a custom-design of the VWF gene provided by Twist BioScience (San Francisco, USA). It comprised all 52 exons, intronic flanking regions, promoter and 3’UTR region of the VWF gene. Libraries were prepared by using the Twist NGS target enrichment solution (Twist BioScience) according to the manufacturer protocol. Samples were analyzed on a NovaSeq 6000 sequencer (Illumina) with a median read depth of 2500X by using the 300-cycle S1 NovaSeq 6000seq reagent kit with 150-bp paired-end reads. The raw data were analyzed with Mutect21 and Vardict2 tools. The inhouse NGSreport software (CHU Lille) was used for data visualization, sequences check and conservation of variants with high quality metrics. In some cases, patients genomic DNA was screened for sequence variations (large deletions, insertions and duplications) by Multiplex Ligation-dependent Probe Amplification (MCR Holland).

      PreviouslyPublished: NA

      Gene: VWF

      Variant: c.1661del, p.(Lys554Serfs*23)

      HGVS: NM_000552.5:c.1661del (p.Lys554Serfs*23)

      ClinVarID:

      CAID: CA2617232671

      gnomAD: MAF is 0.00001332 (1/75048 alleles) in African/African/American population https://gnomad.broadinstitute.org/variant/chr12-6057916-CT-C?dataset=gnomad_r4

      Variant: c.2365A > G, p.(Thr789Ala)

      HGVS: NM_000552.5:c.2365A>G (p.Thr789Ala)

      ClinVarID: 256659

      CAID: CA6403090

      gnomAD: MAF of 0.5793 (43409/74928 alleles) in African/African American population https://gnomad.broadinstitute.org/variant/chr12-6044368-T-C?dataset=gnomad_r4

      Variant: c.2385T > C, p.(Tyr795 =)

      HGVS: NM_000552.5:c.2385T>C (p.Tyr795=)

      ClinVarID: 256660

      CAID: CA6403087

      gnomAD: MAF of 0.5788 (43385/74952 alleles) in African/African American population https://gnomad.broadinstitute.org/variant/chr12-6044348-A-G?dataset=gnomad_r4

      Variant: c.2880G > A, p.(Arg960 =)

      HGVS: NM_000552.5:c.2880G>A (p.Arg960=)

      ClinVarID: 195657

      CAID: CA201877

      gnomAD: MAF of 0.3169 (23737/74896 alleles) in African/African American population https://gnomad.broadinstitute.org/variant/chr12-6029429-C-T?dataset=gnomad_r4

      Variant: c.3505T > A, p.(Cys1169Ser)

      HGVS: NM_000552.5:c.3505T>A (p.Cys1169Ser)

      ClinVarID:

      CAID: CA383511219

      gnomAD:

      Variant: c.4138A > G, p.(Ile1380Val)

      HGVS: NM_000552.5:c.4138A>G (p.Ile1380Val)

      ClinVarID: 310063

      CAID: CA6402595

      gnomAD: MAF of 0.1184 (8878/74958 alleles) in African/African American population https://gnomad.broadinstitute.org/variant/chr12-6019280-T-C?dataset=gnomad_r4

      Variant: c.4304A > G, p.(Asn1435Ser)

      HGVS: NM_000552.5:c.4304A>G (p.Asn1435Ser)

      ClinVarID: 310062

      CAID: CA6402552

      gnomAD: MAF of 0.1124 (8427/74964 alleles) in African/African American population https://gnomad.broadinstitute.org/variant/chr12-6019114-T-C?dataset=gnomad_r4

      Variant: c.4414G > C p.(Asp1472His)

      HGVS: NM_000552.5:c.4414G>C (p.Asp1472His)

      ClinVarID: 256679

      CAID: CA6402534

      gnomAD: MAF of 0.5076 (38011/74882 alleles) in African/African American population https://gnomad.broadinstitute.org/variant/chr12-6019004-C-G?dataset=gnomad_r4

      Variant: c.6554G > A, p.(Arg2185Gln)

      HGVS: NM_000552.5:c.6554G>A (p.Arg2185Gln)

      ClinVarID: 100443

      CAID: CA228748

      gnomAD: MAF of 0.1927 (14427/74878 alleles) in African/African American population https://gnomad.broadinstitute.org/variant/chr12-5993906-C-T?dataset=gnomad_r4

      Individual CaseInfo Gene:VWF DiseaseEntity:VWD2A FamilyInfo Zygosity:CompoundHeterozygous CAID:CA2617232671 ClinVarID:256659 CAID:CA6403090 ClinVarID:256660 CAID:CA6403087 ClinVarID:195657 CAID:CA201877 CAID:CA383511219 ClinVarID:310063 CAID:CA6402595 ClinVarID:310062 CAID:CA6402552 ClinVarID:256679 CAID:CA6402534 CAID:CA228748 ClinVarID:100443 AlleleOrigin:Germline inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
    2. ClingenBaseline 23 Oct 2026
      18 K

      Case: Patient 18, Family K (Table 1.), F/53, Afro-Caribbean

      DiseaseAssertion: VWD2A (IIE)

      FamilyInfo: Patient 29 (F/33, Afro-Caribbean), Patient 32 (F/17, Afro-Caribbean), Patient 33 (F/49, Afro-Caribbean) also from Family K. (Table 1.)

      ParentalGenotype(s): NA

      CasePresentingHPOs:

      CaseHPOFreeRext: BAT =27, FVIII:C (IU/dL) = 19, VWF:Ag (IU/dL) = 16, VWF:Act (IU/dL) = 4

      CaseNOTHPOs:

      CaseNOTHPOFreeText: Blood type A+

      CasePreviousTesting:

      GenotypingMethod: All samples were analyzed by captured-based high throughput sequencing which was performed with a custom-design of the VWF gene provided by Twist BioScience (San Francisco, USA). It comprised all 52 exons, intronic flanking regions, promoter and 3’UTR region of the VWF gene. Libraries were prepared by using the Twist NGS target enrichment solution (Twist BioScience) according to the manufacturer protocol. Samples were analyzed on a NovaSeq 6000 sequencer (Illumina) with a median read depth of 2500X by using the 300-cycle S1 NovaSeq 6000seq reagent kit with 150-bp paired-end reads. The raw data were analyzed with Mutect21 and Vardict2 tools. The inhouse NGSreport software (CHU Lille) was used for data visualization, sequences check and conservation of variants with high quality metrics. In some cases, patients genomic DNA was screened for sequence variations (large deletions, insertions and duplications) by Multiplex Ligation-dependent Probe Amplification (MCR Holland).

      PreviouslyPublished: NA

      Gene: VWF

      Variant: c.1661del, p.(Lys554Serfs*23)

      HGVS: NM_000552.5:c.1661del (p.Lys554Serfs*23)

      ClinVarID:

      CAID: CA2617232671

      gnomAD: MAF is 0.00001332 (1/75048 alleles) in African/African/American population https://gnomad.broadinstitute.org/variant/chr12-6057916-CT-C?dataset=gnomad_r4

      Variant: c.2365A > G, p.(Thr789Ala)

      HGVS: NM_000552.5:c.2365A>G (p.Thr789Ala)

      ClinVarID: 256659

      CAID: CA6403090

      gnomAD: MAF of 0.5793 (43409/74928 alleles) in African/African American population https://gnomad.broadinstitute.org/variant/chr12-6044368-T-C?dataset=gnomad_r4

      Variant: c.2385T > C, p.(Tyr795 =)

      HGVS: NM_000552.5:c.2385T>C (p.Tyr795=)

      ClinVarID: 256660

      CAID: CA6403087

      gnomAD: MAF of 0.5788 (43385/74952 alleles) in African/African American population https://gnomad.broadinstitute.org/variant/chr12-6044348-A-G?dataset=gnomad_r4

      Variant: c.2880G > A, p.(Arg960 =)

      HGVS: NM_000552.5:c.2880G>A (p.Arg960=)

      ClinVarID: 195657

      CAID: CA201877

      gnomAD: MAF of 0.3169 (23737/74896 alleles) in African/African American population https://gnomad.broadinstitute.org/variant/chr12-6029429-C-T?dataset=gnomad_r4

      Variant: c.3505T > A, p.(Cys1169Ser)

      HGVS: NM_000552.5:c.3505T>A (p.Cys1169Ser)

      ClinVarID:

      CAID: CA383511219

      gnomAD:

      Variant: c.4414G > C p.(Asp1472His)

      HGVS: NM_000552.5:c.4414G>C (p.Asp1472His)

      ClinVarID: 256679

      CAID: CA6402534

      gnomAD: MAF of 0.5076 (38011/74882 alleles) in African/African American population https://gnomad.broadinstitute.org/variant/chr12-6019004-C-G?dataset=gnomad_r4

      Variant: c.6554G > A, p.(Arg2185Gln)

      HGVS: NM_000552.5:c.6554G>A (p.Arg2185Gln)

      ClinVarID: 100443

      CAID: CA228748

      gnomAD: MAF of 0.1927 (14427/74878 alleles) in African/African American population https://gnomad.broadinstitute.org/variant/chr12-5993906-C-T?dataset=gnomad_r4

      Individual CaseInfo Gene:VWF DiseaseEntity:VWD2A Zygosity:CompoundHeterozygous CAID:CA2617232671 ClinVarID:256659 CAID:CA6403090 ClinVarID:256660 CAID:CA6403087 ClinVarID:195657 CAID:CA201877 CAID:CA383511219 ClinVarID:256679 CAID:CA6402534 ClinVarID:100443 CAID:CA228748 AlleleOrigin:Germline FamilyInfo inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
    3. ClingenBaseline 22 Oct 2026
      4 C

      Case: Patient 4, Family C (Table 1.), F/38, Afro-Caribbean

      DiseaseAssertion: VWD1

      FamilyInfo: NA

      ParentalGenotype(s): NA

      CasePresentingHPOs:

      CaseHPOFreeRext: BAT = 16, FVIII:C (IU/dL) = NA, VWF:Ag (IU/dL) = 40, VWF:Act (IU/dL) = 36

      CaseNOTHPOs:

      CaseNOTHPOFreeText: Blood group A

      CasePreviousTesting:

      GenotypingMethod: All samples were analyzed by captured-based high throughput sequencing which was performed with a custom-design of the VWF gene provided by Twist BioScience (San Francisco, USA). It comprised all 52 exons, intronic flanking regions, promoter and 3’UTR region of the VWF gene. Libraries were prepared by using the Twist NGS target enrichment solution (Twist BioScience) according to the manufacturer protocol. Samples were analyzed on a NovaSeq 6000 sequencer (Illumina) with a median read depth of 2500X by using the 300-cycle S1 NovaSeq 6000seq reagent kit with 150-bp paired-end reads. The raw data were analyzed with Mutect21 and Vardict2 tools. The inhouse NGSreport software (CHU Lille) was used for data visualization, sequences check and conservation of variants with high quality metrics. In some cases, patients genomic DNA was screened for sequence variations (large deletions, insertions and duplications) by Multiplex Ligation-dependent Probe Amplification (MCR Holland).

      PreviouslyPublished: NA

      Gene: VWF

      Variant: c.2365A > G p.(Thr789Ala)

      HGVS: NM_000552.5:c.2365A>G (p.Thr789Ala)

      ClinVarID: 256659

      CAID: CA6403090

      gnomAD: MAF of 0.5793 (43409/74928 alleles) in African/African American population https://gnomad.broadinstitute.org/variant/12-6044368-T-C?dataset=gnomad_r4

      Variant: c.2385T > C p.(Tyr795 =)

      HGVS: NM_000552.5:c.2385T>C (p.Tyr795=)

      ClinVarID: 256660

      CAID: CA6403087

      gnomAD: MAF of 0.5788 (43385/74952 alleles) in African/African American population https://gnomad.broadinstitute.org/variant/12-6044348-A-G?dataset=gnomad_r4

      Variant: c.4019T > C p.(Leu1340Arg)

      the paper incorrectly lists the amino acid change as Leu1340Arg but it should be Leu1340Pro

      HGVS: NM_000552.5:c.4019T>C

      ClinVarID: 3061402

      CAID: CA383505745

      gnomAD:

      Variant: c.4457C > T p.(Ser1486Leu)

      HGVS: NM_000552.5:c.4457C>T (p.Ser1486Leu)

      ClinVarID: 560630

      CAID: CA6402527

      gnomAD: MAF of 0.009120 (684/74998 alleles) in African/African American population https://gnomad.broadinstitute.org/variant/12-6018961-G-A?dataset=gnomad_r4

      Variant: c.6187C > T p.(Pro2063Ser)

      HGVS: NM_000552.5:c.6187C>T (p.Pro2063Ser)

      ClinVarID: 100436

      CAID: CA202650

      gnomAD: MAF of 0.04780 (4353/91066 alleles) in Africa/African American population https://gnomad.broadinstitute.org/variant/12-5994484-G-A?dataset=gnomad_r4

      Variant: c.7059G > C p.(Glu2353Ser)

      paper incorrectly lists amino acid change as Glu2353Ser but it should be Glu2353Asp

      HGVS: NM_000552.5:c.7059G>C

      ClinVarID: 993253

      CAID: CA6401794

      gnomAD: MAF of 0.006101 (458/75068 alleles) in African/African American population https://gnomad.broadinstitute.org/variant/chr12-5983172-C-G?dataset=gnomad_r4

      Individual CaseInfo Gene:VWF DiseaseEntity:VWD1 ClinVarID:256659 CAID:CA6403090 ClinVarID:256660 CAID:CA6403087 ClinVarID:3061402 CAID:CA383505745 ClinVarID:560630 CAID:CA6402527 ClinVarID:100436 CAID:CA202650 ClinVarID:993253 CAID:CA6401794 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
    4. ClingenBaseline 21 Oct 2026
      32 K

      Case: Patient 32, Family K (Table 1.), F/17, Afro-Caribbean

      DiseaseAssertion: VWD2A (IIE)

      FamilyInfo: Patient 18 (F/53, Afro-Carribean), Patient 29 (F/33, Afro-Caribbean), Patient 33 (F/49, Afro-Caribbean) also from Family K. (Table 1.)

      ParentalGenotype(s): NA

      CasePresentingHPOs:

      CaseHPOFreeRext: BAT =4, FVIII:C (IU/dL) = 79, VWF:Ag (IU/dL) = 49, VWF:Act (IU/dL) = 37

      CaseNOTHPOs:

      CaseNOTHPOFreeText: Blood type O+

      CasePreviousTesting:

      GenotypingMethod: All samples were analyzed by captured-based high throughput sequencing which was performed with a custom-design of the VWF gene provided by Twist BioScience (San Francisco, USA). It comprised all 52 exons, intronic flanking regions, promoter and 3’UTR region of the VWF gene. Libraries were prepared by using the Twist NGS target enrichment solution (Twist BioScience) according to the manufacturer protocol. Samples were analyzed on a NovaSeq 6000 sequencer (Illumina) with a median read depth of 2500X by using the 300-cycle S1 NovaSeq 6000seq reagent kit with 150-bp paired-end reads. The raw data were analyzed with Mutect21 and Vardict2 tools. The inhouse NGSreport software (CHU Lille) was used for data visualization, sequences check and conservation of variants with high quality metrics. In some cases, patients genomic DNA was screened for sequence variations (large deletions, insertions and duplications) by Multiplex Ligation-dependent Probe Amplification (MCR Holland).

      PreviouslyPublished: NA

      Gene: VWF

      Variant: c.2365A > G, p.(Thr789Ala)

      HGVS: NM_000552.5:c.2365A>G (p.Thr789Ala)

      ClinVarID: 256659

      CAID: CA6403090

      gnomAD: MAF of 0.5793 (43409/74928 alleles) in African/African American population https://gnomad.broadinstitute.org/variant/chr12-6044368-T-C?dataset=gnomad_r4

      Variant: c.2385T > C, p.(Tyr795 =)

      HGVS: NM_000552.5:c.2385T>C (p.Tyr795=)

      ClinVarID: 256660

      CAID: CA6403087

      gnomAD: MAF of 0.5788 (43385/74952 alleles) in African/African American population https://gnomad.broadinstitute.org/variant/chr12-6044348-A-G?dataset=gnomad_r4

      Variant: c.2880G > A, p.(Arg960 =)

      HGVS: NM_000552.5:c.2880G>A (p.Arg960=)

      ClinVarID: 195657

      CAID: CA201877

      gnomAD: MAF of 0.3169 (23737/74896 alleles) in African/African American population https://gnomad.broadinstitute.org/variant/chr12-6029429-C-T?dataset=gnomad_r4

      Variant: c.3505T > A, p.(Cys1169Ser)

      HGVS: NM_000552.5:c.3505T>A (p.Cys1169Ser)

      ClinVarID:

      CAID: CA383511219

      gnomAD:

      Individual CaseInfo Gene:VWF DiseaseEntity:VWD2A FamilyInfo Zygosity:CompoundHeterozygous ClinVarID:256659 CAID:CA6403090 ClinVarID:256660 CAID:CA6403087 ClinVarID:195657 CAID:CA201877 CAID:CA383511219 AlleleOrigin:Germline inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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    pmc.ncbi.nlm.nih.gov/articles/PMC12175117/