9 Matching Annotations
  1. Last 7 days
    1. CLEC4M(rs753084254):c.C>T, noted as synonymous protein effect and VarSome classifies it as a VUS.

      CLEC4M(rs113080783):c.A>G, noted as missense protein effect and VarSome classifies it as a VUS.

      CLEC4M(rs62623420):c.A>G,noted as Splice acceptor protein effect and VarSome classifies it as a VUS.

      CLEC4M(rs868878):c.G>A, noted as synonymous protein effect and VarSome classifies it as Benign.

      CLEC4M(rs2277998):c.G>A, noted as missense protein effect and VarSome classifies it as Benign

    2. STX2(rs145834567):c.T>C, noted as missense protein effect and Varsome classifies it as a VUS.

      STX2(rs137928907):c.A>C, noted as missense protein effect and Varsome classifies it as a VUS.

      STX2(rs17564):c.G>C, noted as missense protein effect and Varsome classifies it as Benign.

    3. STXBP5(rs144099092):c.C>G, noted as missense protein effect and VarSome classifies it as a VUS.

      STXBP5(rs148830578):c.A>G, noted as missense protein effect and VarSome classifies it as a VUS.

      STXBP5(rs34324348):c.C>T, noted as synonymous protein effect and VarSome classifies it as a Likely Benign.

      STXBP5(rs34677388):c.A>G,noted as synonymous protein effect and VarSome classifies it as Likely Benign.

      STXBP5(rs9390459):c.G>A, noted as synonymous protein effect and VarSome classifies it as Benign.

      STXBP5(rs1039084):c.A>G, noted as missense protein effect and VarSome classifies it as Benign.

    4. Variants identified in Swedish VWD patients

      ABO(rs139670895):c.C>T, noted as synonymous protein effect and VarSome classifies it as a VUS.

      ABO(rs8176751):c.C>T, noted as sysnonymous protein effect and VarSome classifies as Benign

      ABO(rs56392308):c.-/GG, noted as frameshift in protein effect and VarSome classifies as Benign

      ABO(rs8176749):c.C>T, noted as synonymous in protein effect and VarSome classifies as Benign

      ABO(rs1474135537):c.G>A, noted as synonymous in protein effect and VarSome classifies as VUS

      ABO(rs8176748):c.C>T, noted as missense in protein effect and VarSome classifies as Benign

      ABO(rs8176745):c.G?A, noted as synonymous in protein effect and VarSome classifies as Benign

      ABO(rs8176744):c.G>T, noted as synonymous in protein effect and VarSome classifies as Benign

      ABO(rs8176743):c.C>T, noted as missense in protein effect and VarSome classifies as Benign

      ABO(rs8176742):c.C>T, noted as synonymous in protein effect and VarSome classifies as Benign

      ABO(rs8176741):c.G>A, noted as synonymous in protein effect and VarSome classifies as Benign

      ABO(rs8176740):c.C>T, noted as missense in protein effect and VarSome classifies as Benign

      ABO(rs7853989):c.G>C noted as missense in protein effect and VarSome classifies as Benign

      ABO(rs1053878):c.G>A noted as missense in protein effect and VarSome classifies as Benign

      ABO(rs8176720):c.T>C, noted as synonymous in protein effect and VarSome classifies as Benign

      ABO(rs8176719):c.-/C, noted as frameshift in protein effect and VarSome classifies as Benign

      ABO(rs512770):c.G>A, noted as missense in protein effect and VarSome classifies as Benign

      ABO(rs688976):c.C>A, noted as missense in protein effect and VarSome classifies as Benign

      ABO(rs8176696):c.C>T, noted as missense in protein effect and VarSome classifies as Likely Benign

  2. Jan 2025
    1. Disease for patient 1: Von Willebrand Disease Type1, transmitter VWD-type 3

      Disease for patient 2: Von Willebrand Disease Type 3

      Patient1: 90 YO female (Afro-Caribbean)

      Patient2: 40 YO female (Afro-Caribbean)

      Notes multiple variants in the VWF gene but have focused on variants in the D4 domain. However cannot discount the impact of some other variants.

      Variant 1: VWF NM_000552.5: c.6647del p.(Cys2216Phefs*9), results in VWF protein missing D4 domain and C-terminal end of molecule

      Phenotype patient 1: Reduced VWF levels in VWF:Ag, VWF:ristocetin cofactor, FVIII:C, FVIII(VWF:FVIIIB). Bleeding score 0, required Helixate treatment before and after receiving surgery.

      Variant 2: VWF NM_000552.5: c.6432dup p.(Pro2145Thrfs*5)

      Three sequence variations in family study showed other variants highlighted p.(Cys1149Arg) and p.(Pro2145Thrfs*5) are not on the same allele.

      Does have other variants in VWF but they are stated by authors to not be detrimental. p.(Val510=) is noted to be potentially deleterious.

      Phenotype patient 2: severely reduced VWF levels, absence of multimers, bleeding score 32, epistaxis, bruising, oral cavity bleeding, prolonged bleeding from minor wounds, menorrhagia, hemarthrosis, ankle arthropathy.

      Suggests premature termination codons in these variants may lead to NMD but that this mechanism was found to be PTC position-dependent. Degradation was not 100% and need to perform cellular experiments.

  3. Jan 2021
  4. Jul 2020