114 Matching Annotations
  1. Mar 2021
    1. Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).

      AssayResult: 0.5

      AssayResultAssertion: Abnormal

      StandardErrorMean: 0.03

    2. Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).

      AssayResult: 0.5

      AssayResultAssertion: Abnormal

      StandardErrorMean: 0.05

    3. Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).

      AssayResult: 0.6

      AssayResultAssertion: Abnormal

      StandardErrorMean: 0.15

    4. Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).

      AssayResult: 0.6

      AssayResultAssertion: Abnormal

      StandardErrorMean: 0.07

      Comment: This variant was reported as c.2145_2146delT p.(Asp715Glufs2), however the numbering implies the deletion of two nucleotides. The deletion of TA, c.2145_2146delTA, gives the reported protein change (p.(Asp715Glufs2), and was assumed to be the intended variant. Use this evidence with caution.

    5. Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).

      AssayResult: 0.8

      AssayResultAssertion: Abnormal

      StandardErrorMean: 0.13

    6. Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).

      AssayResult: 1

      AssayResultAssertion: Abnormal

      StandardErrorMean: 0

    7. Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).

      AssayResult: 2.4

      AssayResultAssertion: Abnormal

      StandardErrorMean: 0.22

      Comment: This variant is reported as a potential hypomorphic variant.

    1. Source Data

      AssayResult: 19.53

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 8.56

      Comment: Exact values reported in “Source Data” file.

    2. Source Data

      AssayResult: 20.08

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 6.84

      Comment: Exact values reported in “Source Data” file.

    3. Source Data

      AssayResult: 15.23

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 6.42

      Comment: Exact values reported in “Source Data” file. Discrepancy in “Source Data” file: protein reported as Q899X.

    4. Source Data

      AssayResult: 17.5

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 7.75

      Comment: Exact values reported in “Source Data” file.

    5. Source Data

      AssayResult: 13.87

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 1.32

      Comment: Exact values reported in “Source Data” file.

    6. Source Data

      AssayResult: 9.67

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 1.31

      Comment: Exact values reported in “Source Data” file.

    7. Source Data

      AssayResult: 12.35

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 1.48

      Comment: Exact values reported in “Source Data” file.

    8. Source Data

      AssayResult: 25.09

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 3.48

      Comment: Exact values reported in “Source Data” file.

    9. Source Data

      AssayResult: 29.04

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 7.24

      Comment: Exact values reported in “Source Data” file.

    10. Source Data

      AssayResult: 19.46

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 1.75

      Comment: Exact values reported in “Source Data” file.

    11. Source Data

      AssayResult: 11.06

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 2.4

      Comment: Exact values reported in “Source Data” file.

    12. Source Data

      AssayResult: 10.68

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 0.32

      Comment: Exact values reported in “Source Data” file.

    13. Source Data

      AssayResult: 23.96

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 7.6

      Comment: Exact values reported in “Source Data” file.

    14. Source Data

      AssayResult: 17.43

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 5.19

      Comment: Exact values reported in “Source Data” file.

    15. Source Data

      AssayResult: 7.42

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 2.87

      StandardErrorMean: 2.03

      Comment: Exact values reported in “Source Data” file.

    16. Source Data

      AssayResult: 10.53

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 2.79

      StandardErrorMean: 1.97

      Comment: Exact values reported in “Source Data” file.

    17. Source Data

      AssayResult: 11.37

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 0.36

      StandardErrorMean: 0.26

      Comment: Exact values reported in “Source Data” file.

    18. Source Data

      AssayResult: 7.92

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 1.32

      StandardErrorMean: 0.94

      Comment: Exact values reported in “Source Data” file.

    19. Source Data

      AssayResult: 6.16

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 1.27

      StandardErrorMean: 0.9

      Comment: Exact values reported in “Source Data” file.

    20. Source Data

      AssayResult: 7.08

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 0.54

      StandardErrorMean: 0.38

      Comment: Exact values reported in “Source Data” file.

    21. Source Data

      AssayResult: 6.1

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 2.11

      StandardErrorMean: 1.49

      Comment: Exact values reported in “Source Data” file.

    22. Source Data

      AssayResult: 7.03

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 2.68

      StandardErrorMean: 1.9

      Comment: Exact values reported in “Source Data” file.

    23. Source Data

      AssayResult: 9.92

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 1.93

      StandardErrorMean: 1.37

      Comment: Exact values reported in “Source Data” file.

    24. Source Data

      AssayResult: 10.4

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 3.22

      StandardErrorMean: 2.28

      Comment: Exact values reported in “Source Data” file.

    25. Source Data

      AssayResult: 7.75

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 2.59

      StandardErrorMean: 1.83

      Comment: Exact values reported in “Source Data” file.

    26. Source Data

      AssayResult: 7.82

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 2.31

      StandardErrorMean: 1.64

      Comment: Exact values reported in “Source Data” file.

  2. Feb 2021
    1. Supplemental material

      AssayResult: 62

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

    2. Supplemental material

      AssayResult: 56, 52

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

    3. Supplemental material

      AssayResult: 61

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

    4. Supplemental material

      AssayResult: 101

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

    5. Supplemental material

      AssayResult: 98

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

    6. Supplemental material

      AssayResult: 102

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

    7. Supplemental material

      AssayResult: 81

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

    8. Supplemental material

      AssayResult: 96

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

    9. Supplemental material

      AssayResult: 4.7

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

    10. Supplemental material

      AssayResult: 7.1, 6.0

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

    11. Supplemental material

      AssayResult: 3.1

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

    12. Supplemental material

      AssayResult: 5.4

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

    13. Supplemental material

      AssayResult: 5

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

    14. Supplemental material

      AssayResult: 4.8

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

    15. Supplemental material

      AssayResult: 3.8

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

    16. Supplemental material

      AssayResult: 3.2

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

    17. Supplemental material

      AssayResult: 82

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    18. Supplemental material

      AssayResult: 80

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    19. Supplemental material

      AssayResult: 69

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    20. Supplemental material

      AssayResult: 99

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    21. Supplemental material

      AssayResult: 98

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    22. Supplemental material

      AssayResult: 77

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    23. Supplemental material

      AssayResult: 105

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    24. Supplemental material

      AssayResult: 96

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    25. Supplemental material

      AssayResult: 104

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    26. Supplemental material

      AssayResult: 99

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    27. Supplemental material

      AssayResult: 83

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    28. Supplemental material

      AssayResult: 91

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    29. Supplemental material

      AssayResult: 86

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    30. Supplemental material

      AssayResult: 56

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    31. Supplemental material

      AssayResult: 61

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    32. Supplemental material

      AssayResult: 51

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    33. Supplemental material

      AssayResult: 66

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    34. Supplemental material

      AssayResult: 60

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    35. Supplemental material

      AssayResult: 65

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    36. Supplemental material

      AssayResult: 66

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    37. Supplemental material

      AssayResult: 45

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    38. Supplemental material

      AssayResult: 58

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    39. Supplemental material

      AssayResult: 49

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    40. Supplemental material

      AssayResult: 83

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    41. Supplemental material

      AssayResult: 84

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    42. Supplemental material

      AssayResult: 91

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    43. Supplemental material

      AssayResult: 94

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    44. Supplemental material

      AssayResult: 97

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    45. Supplemental material

      AssayResult: 98

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    46. Supplemental material

      AssayResult: 96

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    47. Supplemental material

      AssayResult: 105

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    48. Supplemental material

      AssayResult: 6.4

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    49. Supplemental material

      AssayResult: 6.8

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    50. Supplemental material

      AssayResult: 7.1

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    51. Supplemental material

      AssayResult: 7.7

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    52. Supplemental material

      AssayResult: 3.5

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    53. Supplemental material

      AssayResult: 3.1

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    54. Supplemental material

      AssayResult: 5

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    55. Supplemental material

      AssayResult: 4.4

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    56. Supplemental material

      AssayResult: 4.2

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    57. Supplemental material

      AssayResult: 4.1

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    58. Supplemental material

      AssayResult: 3.5

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    59. Supplemental material

      AssayResult: 4.9

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    60. Supplemental material

      AssayResult: 5.4

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    61. Supplemental material

      AssayResult: 6.7

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    62. Supplemental material

      AssayResult: 10.8

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    63. Supplemental material

      AssayResult: 4.9

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    64. Supplemental material

      AssayResult: 4.9

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    65. Supplemental material

      AssayResult: 8.6

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    66. Supplemental material

      AssayResult: 4

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    67. Supplemental material

      AssayResult: 6

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    68. Supplemental material

      AssayResult: 5.4

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    69. Supplemental material

      AssayResult: 5.8

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    70. Supplemental material

      AssayResult: 7.1

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    71. Supplemental material

      AssayResult: 5.5

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    72. Supplemental material

      AssayResult: 2.8

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    73. Supplemental material

      AssayResult: 2

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    74. Supplemental material

      AssayResult: 2.8

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    75. Supplemental material

      AssayResult: 3.1

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    76. Supplemental material

      AssayResult: 5.6

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    77. Supplemental material

      AssayResult: 3.5

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    78. Supplemental material

      AssayResult: 5.8

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

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