1,045 Matching Annotations
  1. Mar 2021
    1. A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected

      HGVS: NM_024675.3:c.232G>A p.(Val78Ile)

    2. A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected

      HGVS: NM_024675.3:c.2200A>T p.(Thr734Ser)

    3. A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected

      HGVS: NM_024675.3:c.23C>T p.(Pro8Leu)

    4. A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected

      HGVS: NM_024675.3:c.1250C>A p.(Ser417Tyr)

    5. A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected

      HGVS: NM_024675.3:c.1145G>T p.(Ser382Ile)

    6. A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected

      HGVS: NM_024675.3:c.3449T>G p.(Leu1150Arg)

    7. A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected

      HGVS: NM_024675.3:c.3307G>A p.(Val1103Met)

    8. A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected

      HGVS: NM_024675.3:c.3306C>G p.(Ser1102Arg)

    1. CRISPR-LMNA HDR assayU2OS were seeded in 6-well plates at 200 000 cells per well. Knockdown of PALB2 was performed 6–8 h later with 50 nM siRNA using Lipofectamine RNAiMAX (Invitrogen). Twenty-four hours post-transfection, 1.5 × 106 cells were pelleted for each condition and resuspended in 100 μL complete nucleofector solution (SE Cell Line 4D-Nucleofector™ X Kit, Lonza) to which 1μg of pCR2.1-mRuby2LMNAdonor, 1 μg of pX330-LMNAgRNA2, 1 μg of the peYFP-C1 empty vector or the indicated siRNA-resistant YFP-PALB2 construct, and 150 ρmol siRNA was added. Once transferred to a 100 ul Lonza certified cuvette, cells were transfected using the 4D-Nucleofector X-unit, program CM-104, resuspended in culture media and split into 2 60-mm dishes. One dish was harvested 24 h later for protein expression analysis as described above while cells from the other were trypsinised after 48 h for plating onto glass coverslips. Coverslips were fixed with 4% paraformaldehyde and cells analyzed for expression of mRuby2-LMNA (indicative of successful HR) by fluorescence microscopy (63×) a total of 72 h post-nucleofection. Data are represented as mean relative percentages ± SD of mRuby2-positive cells over the YFP-positive population from 3 independent experiments (total n >300 YFP-positive cells per condition).

      AssayGeneralClass: BAO:0003061 reporter protein

      AssayMaterialUsed: CLO:0009454 U-2 OS cell

      AssayDescription: U2OS cells were treated with PALB2 siRNA and synchronized to G1/S phase by double thymidine block. Cells were then co-transfected with peYFP-PALB2 expressing PALB2 variants (or empty vector), pCR2.1-mRuby2LMNAdonor, and pX330-LMNAgRNA, which generates mRuby2-Lamin A/C fusion if HDR is successful.

      AssayReadOutDescription: Mean relative percentages of mRuby2-positive cells over the YFP-positive population relative to the wild type condition.

      AssayRange: %

      AssayNormalRange: Not reported

      AssayAbnormalRange: <40%

      AssayIndeterminateRange: 41%-77%

      ValidationControlPathogenic: 1

      ValidationControlBenign: 3

      Replication: Three independent experiments, each with n > 300 YFP-positive cells per condition

      StatisticalAnalysisDescription: One-way ANOVA followed by Dunnett's post hoc analysis

    2. RAD51 foci assayHeLa cells were seeded on glass coverslips in 6-well plates at 225 000 cells per well. Knockdown of PALB2 was performed 18 h later with 50 nM PALB2 siRNA using Lipofectamine RNAiMAX (Invitrogen). After 5 h, cells were subjected to double thymidine block. Briefly, cells were treated with 2 mM thymidine for 18 h and release into fresh media for 9 h. Complementation using 800 ng of the peYFP-C1 empty vector or the indicated siRNA-resistant YFP-PALB2 construct was carried out with Lipofectamine 2000 during that release time. Then, cells were treated with 2 mM thymidine for 17 h and protected from light from this point on. After 2 h of release from the second block, cells were irradiated with 2 Gy and processed for immunofluorescence 4 h post-irradiation. Unless otherwise stated, all immunofluorescence dilutions were prepared in PBS and incubations performed at room temperature with intervening washes in PBS. Cell fixation was carried out by incubation with 4% paraformaldehyde for 10 min followed by 100% ice-cold methanol for 5 min at −20°C. This was succeeded by permeabilization in 0.2% Triton X-100 for 5 min and a quenching step using 0.1% sodium borohydride for 5 min. After blocking for 1 h in a solution containing 10% goat serum and 1% BSA, cells were incubated for 1 h with primary antibodies anti-RAD51 (1 :7000, B-bridge International, #70–001) and anti-cyclin A (1:400, BD Biosciences, #611268) diluted in 1% BSA. Secondary antibodies Alexa Fluor 568 goat anti-rabbit (Invitrogen, #A-11011) and Alexa Fluor 647 goat anti-mouse (Invitrogen, #A-21235) were diluted 1:1000 in 1% BSA and applied for 1 h. Nuclei were stained for 10 min with 1 μg/ml 4,6-diamidino-2-phenylindole (DAPI) prior to mounting onto slides with 90% glycerol containing 1 mg/ml paraphenylenediamine anti-fade reagent. Z-stack images were acquired on a Leica CTR 6000 microscope using a 63× oil immersion objective, then deconvolved and analyzed for RAD51 foci formation with Volocity software v6.0.1 (Perkin-Elmer Improvision). The number of RAD51 foci per cyclin A-positive cells expressing the indicated YFP-PALB2 constructs was scored using automatic spot counting by Volocity software and validated manually. Data from three independent trials (total n = 225 cells per condition) were analyzed for outliers using the ROUT method (Q = 1.0%) in GraphPad Prism v6.0 and the remaining were reported in a scatter dot plot. Intensity values, also provided by Volocity, of 500 RAD51 foci from a representative trial were normalized to the WT mean and reported in a scatter dot plot. Horizontal lines on the plots designate the mean values.

      AssayGeneralClass: BAO:0000450 fluorescence microscopy

      AssayMaterialUsed: CLO:0003684 HeLa cell

      AssayDescription: HeLa cells were treated with PALB2 siRNA and synchronized to G1/S phase by double thymidine block. Cells were then transfected with peYFP-PALB2 expressing PALB2 variants (or empty vector) and irradiated with 2 Gy. Four hours after irradiation, cells were subjected to immunofluorescence for RAD51 foci (where foci formation serves as marker of normal DNA damage repair function).

      AssayReadOutDescription: The number of RAD51 foci per cyclin A-positive cells expressing the indicated YFP-PALB2 constructs was scored and presented as percentage change relative to the wild type mean RAD51 foci number per cell.

      AssayRange: %

      AssayNormalRange: Not reported

      AssayAbnormalRange: Not reported

      AssayIndeterminateRange: Not reported

      ValidationControlPathogenic: 1

      ValidationControlBenign: 3

      Replication: Three independent experiments, each with 225 cells per condition

      StatisticalAnalysisDescription: Kruskal–Wallis test with Dunn's multiple comparison post-test

    3. Olaparib sensitivity assayFor the sensitivity assay in HeLa, 240 000 cells were seeded into one well of a six-well plate before being transfected 6–8 h later with 50 nM control or PALB2 siRNA using Lipofectamine RNAiMAX (Invitrogen). The next morning, cells were complemented with 800 ng of the peYFP-C1 empty vector or the indicated siRNA-resistant YFP-tagged PALB2 construct using Lipofectamine 2000 (Invitrogen) for 24 h and then seeded in triplicates into a Corning 3603 black-sided clear bottom 96-well microplate at a density of 3000 cells per well. The remaining cells were kept and stored at −80°C until processed for protein extraction and immunoblotting as described above. Once attached to the plate, cells were exposed to different concentrations of olaparib (Selleckchem, #S1060) ranging from 0 (DMSO) to 2.5 μM. After 3 days of treatment, nuclei were stained with Hoechst 33342 (Invitrogen) at 10 μg/ml in media for 45 min at 37°C. Images of entire wells were acquired at 4x with a Cytation 5 Cell Imaging Multi-Mode Reader followed by quantification of Hoechst-stained nuclei with the Gen5 Data Analysis Software v3.03 (BioTek Instruments). Cell viability was expressed as percentage of survival in olaparib-treated cells relative to vehicle (DMSO)-treated cells. Results represent the mean ± SD of at least 3 independent experiments, each performed in triplicate.

      AssayGeneralClass: BAO:0003009 cell viability assay

      AssayMaterialUsed: CLO:0003684 HeLa cell

      AssayDescription: HeLa cells were treated with PALB2 siRNA followed by transfection peYFP-PALB2 expressing PALB2 variants (or empty vector) and exposed to olaparib (2.5 µM) for 3 days. Nuclei were stained with Hoechst 33342 and measured as an indicator of cell viability.

      AssayReadOutDescription: Cell viability expressed as percentage of survival in olaparib-treated cells relative to vehicle (DMSO)-treated cells

      AssayRange: %

      AssayNormalRange: Not reported

      AssayAbnormalRange: Not reported

      AssayIndeterminateRange: Not reported

      ValidationControlPathogenic: 1

      ValidationControlBenign: 3

      Replication: At least 3 independent experiments, each performed in triplicate

      StatisticalAnalysisDescription: Kruskal–Wallis test with Dunn's multiple comparison post-test

    4. While biallelic mutations in the PALB2 tumor suppressor cause Fanconi anemia subtype FA-N, monoallelic mutations predispose to breast and familial pancreatic cancer.

      Gene: PALB2

      Disease: Hereditary breast carcinoma

      MONDO: MONDO:0016419

      InheritancePattern: Autosomal dominant

    5. A global functional analysis of missense mutations reveals two major hotspots in the PALB2 tumor suppressor
    6. SUPPLEMENTARY DATA

      AssayResult: 5

      AssayResultAssertion: Abnormal

      PValue: < 0.0001

      Approximation: Exact assay result value not reported; value estimated from Figure 6C.

      ControlType: Abnormal; empty vector

    7. SUPPLEMENTARY DATA

      AssayResult: 100

      AssayResultAssertion: Normal

      ControlType: Normal; wild type PALB2 cDNA

    8. SUPPLEMENTARY DATA

      AssayResult: 34

      AssayResultAssertion: Abnormal

      PValue: < 0.0001

    9. SUPPLEMENTARY DATA

      AssayResult: 68

      AssayResultAssertion: Indeterminate

      PValue: < 0.0001

      Approximation: Exact assay result value not reported; value estimated from Figure 6C.

    10. SUPPLEMENTARY DATA

      AssayResult: 90

      AssayResultAssertion: Normal

      PValue: Not reported

      Approximation: Exact assay result value not reported; value estimated from Figure 6C.

    11. SUPPLEMENTARY DATA

      AssayResult: 46

      AssayResultAssertion: Indeterminate

      PValue: < 0.0001

      Approximation: Exact assay result value not reported; value estimated from Figure 6C.

    12. SUPPLEMENTARY DATA

      AssayResult: 23.6

      AssayResultAssertion: Abnormal

      PValue: < 0.0001

    13. SUPPLEMENTARY DATA

      AssayResult: 82

      AssayResultAssertion: Normal

      PValue: Not reported

      Approximation: Exact assay result value not reported; value estimated from Figure 6C.

    14. SUPPLEMENTARY DATA

      AssayResult: 53

      AssayResultAssertion: Indeterminate

      PValue: < 0.0001

      Approximation: Exact assay result value not reported; value estimated from Figure 6C.

    15. SUPPLEMENTARY DATA

      AssayResult: 41

      AssayResultAssertion: Indeterminate

      PValue: < 0.0001

      Approximation: Exact assay result value not reported; value estimated from Figure 6C.

    16. SUPPLEMENTARY DATA

      AssayResult: 95

      AssayResultAssertion: Normal

      PValue: Not reported

      Approximation: Exact assay result value not reported; value estimated from Figure 6C.

    17. SUPPLEMENTARY DATA

      AssayResult: 90

      AssayResultAssertion: Normal

      PValue: Not reported

      Approximation: Exact assay result value not reported; value estimated from Figure 6C.

    18. SUPPLEMENTARY DATA

      AssayResult: 83

      AssayResultAssertion: Not reported

      PValue: Not reported

      Approximation: Exact assay result value not reported; value estimated from Figure 6C.

    19. SUPPLEMENTARY DATA

      AssayResult: 77

      AssayResultAssertion: Indeterminate

      PValue: < 0.01

      Approximation: Exact assay result value not reported; value estimated from Figure 6C.

    20. SUPPLEMENTARY DATA

      AssayResult: 81

      AssayResultAssertion: Not reported

      PValue: Not reported

      Approximation: Exact assay result value not reported; value estimated from Figure 6C.

    21. SUPPLEMENTARY DATA

      AssayResult: 38

      AssayResultAssertion: Abnormal

      PValue: < 0.0001

      Approximation: Exact assay result value not reported; value estimated from Figure 6C.

    22. SUPPLEMENTARY DATA

      AssayResult: 5

      AssayResultAssertion: Abnormal

      PValue: < 0.0001

      Approximation: Exact assay result value not reported; value estimated from Figure 6C.

    23. SUPPLEMENTARY DATA

      AssayResult: 36

      AssayResultAssertion: Abnormal

      PValue: < 0.0001

      Approximation: Exact assay result value not reported; value estimated from Figure 6C.

    24. SUPPLEMENTARY DATA

      AssayResult: 85

      AssayResultAssertion: Not reported

      PValue: Not reported

      Approximation: Exact assay result value not reported; value estimated from Figure 6C.

    25. SUPPLEMENTARY DATA

      AssayResult: 58

      AssayResultAssertion: Indeterminate

      PValue: < 0.0001

      Approximation: Exact assay result value not reported; value estimated from Figure 6C.

    26. SUPPLEMENTARY DATA

      AssayResult: -96

      AssayResultAssertion: Abnormal

      PValue: < 0.0001

      ControlType: Abnormal; empty vector

    27. SUPPLEMENTARY DATA

      AssayResult: 0

      AssayResultAssertion: Normal

      ControlType: Normal; wild type PALB2 cDNA

    28. SUPPLEMENTARY DATA

      AssayResult: -34

      AssayResultAssertion: Abnormal

      PValue: < 0.0001

    29. SUPPLEMENTARY DATA

      AssayResult: -11

      AssayResultAssertion: Indeterminate

      PValue: Not reported

    30. SUPPLEMENTARY DATA

      AssayResult: -4

      AssayResultAssertion: Indeterminate

      PValue: Not reported

    31. SUPPLEMENTARY DATA

      AssayResult: -14

      AssayResultAssertion: Indeterminate

      PValue: Not reported

    32. SUPPLEMENTARY DATA

      AssayResult: -56

      AssayResultAssertion: Abnormal

      PValue: < 0.0001

    33. SUPPLEMENTARY DATA

      AssayResult: -6

      AssayResultAssertion: Normal

      PValue: Not reported

    34. SUPPLEMENTARY DATA

      AssayResult: -25

      AssayResultAssertion: Abnormal

      PValue: < 0.01

    35. SUPPLEMENTARY DATA

      AssayResult: -31

      AssayResultAssertion: Abnormal

      PValue: < 0.0001

    36. SUPPLEMENTARY DATA

      AssayResult: -16

      AssayResultAssertion: Normal

      PValue: Not reported

    37. SUPPLEMENTARY DATA

      AssayResult: -10

      AssayResultAssertion: Normal

      PValue: Not reported

    38. SUPPLEMENTARY DATA

      AssayResult: -21

      AssayResultAssertion: Indeterminate

      PValue: < 0.01

    39. SUPPLEMENTARY DATA

      AssayResult: -20

      AssayResultAssertion: Indeterminate

      PValue: < 0.05

    40. SUPPLEMENTARY DATA

      AssayResult: 8

      AssayResultAssertion: Indeterminate

      PValue: Not reported

    41. SUPPLEMENTARY DATA

      AssayResult: -29

      AssayResultAssertion: Abnormal

      PValue: < 0.0001

    42. SUPPLEMENTARY DATA

      AssayResult: -98

      AssayResultAssertion: Abnormal

      PValue: < 0.0001

    43. SUPPLEMENTARY DATA

      AssayResult: -36

      AssayResultAssertion: Abnormal

      PValue: < 0.0001

    44. SUPPLEMENTARY DATA

      AssayResult: 3

      AssayResultAssertion: Indeterminate

      PValue: Not reported

    45. SUPPLEMENTARY DATA

      AssayResult: -32

      AssayResultAssertion: Abnormal

      PValue: < 0.0001

    46. SUPPLEMENTARY DATA

      AssayResult: 48

      AssayResultAssertion: Abnormal

      PValue: < 0.0001

      Approximation: Exact assay result value not reported; value estimated from Figure 1D.

      ControlType: Abnormal; empty vector

    47. SUPPLEMENTARY DATA

      AssayResult: 100

      AssayResultAssertion: Normal

      ControlType: Normal; wild type PALB2 cDNA

    48. SUPPLEMENTARY DATA

      AssayResult: 106

      AssayResultAssertion: Not reported

      PValue: > 0.9999

      Comment: Exact values reported in Table S3.

    49. SUPPLEMENTARY DATA

      AssayResult: 108.6

      AssayResultAssertion: Not reported

      PValue: > 0.9999

      Comment: Exact values reported in Table S3.

    50. SUPPLEMENTARY DATA

      AssayResult: 64.45

      AssayResultAssertion: Abnormal

      PValue: < 0.0001

      Comment: Exact values reported in Table S3.

    51. SUPPLEMENTARY DATA

      AssayResult: 84.49

      AssayResultAssertion: Indeterminate

      PValue: 0.0058

      Comment: Exact values reported in Table S3.

    52. SUPPLEMENTARY DATA

      AssayResult: 92.43

      AssayResultAssertion: Not reported

      PValue: > 0.9999

      Comment: Exact values reported in Table S3.

    53. SUPPLEMENTARY DATA

      AssayResult: 88.66

      AssayResultAssertion: Not reported

      PValue: 0.727

      Comment: Exact values reported in Table S3.

    54. SUPPLEMENTARY DATA

      AssayResult: 96.63

      AssayResultAssertion: Not reported

      PValue: > 0.9999

      Comment: Exact values reported in Table S3.

    55. SUPPLEMENTARY DATA

      AssayResult: 97.59

      AssayResultAssertion: Not reported

      PValue: > 0.9999

      Comment: Exact values reported in Table S3.

    56. SUPPLEMENTARY DATA

      AssayResult: 94.36

      AssayResultAssertion: Not reported

      PValue: > 0.9999

      Comment: Exact values reported in Table S3.

    57. SUPPLEMENTARY DATA

      AssayResult: 98.94

      AssayResultAssertion: Not reported

      PValue: > 0.9999

      Comment: Exact values reported in Table S3.

    58. SUPPLEMENTARY DATA

      AssayResult: 87.19

      AssayResultAssertion: Not reported

      PValue: 0.341

      Comment: Exact values reported in Table S3.

    59. SUPPLEMENTARY DATA

      AssayResult: 98.25

      AssayResultAssertion: Not reported

      PValue: > 0.9999

      Comment: Exact values reported in Table S3.

    60. SUPPLEMENTARY DATA

      AssayResult: 57.61

      AssayResultAssertion: Abnormal

      PValue: < 0.0001

      Comment: Exact values reported in Table S3.

    61. SUPPLEMENTARY DATA

      AssayResult: 109.2

      AssayResultAssertion: Not reported

      PValue: > 0.9999

      Comment: Exact values reported in Table S3.

    62. SUPPLEMENTARY DATA

      AssayResult: 95.47

      AssayResultAssertion: Not reported

      PValue: > 0.9999

      Comment: Exact values reported in Table S3.

    63. SUPPLEMENTARY DATA

      AssayResult: 97.77

      AssayResultAssertion: Not reported

      PValue: > 0.9999

      Comment: Exact values reported in Table S3.

    64. SUPPLEMENTARY DATA

      AssayResult: 103.5

      AssayResultAssertion: Normal

      PValue: > 0.9999

      Comment: Exact values reported in Table S3.

    65. SUPPLEMENTARY DATA

      AssayResult: 100.7

      AssayResultAssertion: Not reported

      PValue: > 0.9999

      Comment: Exact values reported in Table S3.

    66. SUPPLEMENTARY DATA

      AssayResult: 102.6

      AssayResultAssertion: Not reported

      PValue: > 0.9999

      Comment: Exact values reported in Table S3.

    67. SUPPLEMENTARY DATA

      AssayResult: 77.32

      AssayResultAssertion: Indeterminate

      PValue: 0.0002

      Comment: Exact values reported in Table S3.

    68. SUPPLEMENTARY DATA

      AssayResult: 82.22

      AssayResultAssertion: Indeterminate

      PValue: 0.004

      Comment: Exact values reported in Table S3.

    69. SUPPLEMENTARY DATA

      AssayResult: 96.97

      AssayResultAssertion: Not reported

      PValue: > 0.9999

      Comment: Exact values reported in Table S3.

    70. SUPPLEMENTARY DATA

      AssayResult: 102.1

      AssayResultAssertion: Normal

      PValue: > 0.9999

      Comment: Exact values reported in Table S3.

    71. SUPPLEMENTARY DATA

      AssayResult: 101.6

      AssayResultAssertion: Normal

      PValue: > 0.9999

      Comment: Exact values reported in Table S3.

    72. SUPPLEMENTARY DATA

      AssayResult: 109.7

      AssayResultAssertion: Not reported

      PValue: > 0.9999

      Comment: Exact values reported in Table S3.

    73. SUPPLEMENTARY DATA

      AssayResult: 109.4

      AssayResultAssertion: Not reported

      PValue: > 0.9999

      Comment: Exact values reported in Table S3.

    74. SUPPLEMENTARY DATA

      AssayResult: 107.5

      AssayResultAssertion: Not reported

      PValue: > 0.9999

      Comment: Exact values reported in Table S3.

    75. SUPPLEMENTARY DATA

      AssayResult: 100.5

      AssayResultAssertion: Not reported

      PValue: > 0.9999

      Comment: Exact values reported in Table S3.

    76. SUPPLEMENTARY DATA

      AssayResult: 103.3

      AssayResultAssertion: Not reported

      PValue: > 0.9999

      Comment: Exact values reported in Table S3.

    77. SUPPLEMENTARY DATA

      AssayResult: 108.7

      AssayResultAssertion: Not reported

      PValue: > 0.9999

      Comment: Exact values reported in Table S3.

    78. SUPPLEMENTARY DATA

      AssayResult: 106.8

      AssayResultAssertion: Not reported

      PValue: > 0.9999

      Comment: Exact values reported in Table S3.

    79. SUPPLEMENTARY DATA

      AssayResult: 94.01

      AssayResultAssertion: Not reported

      PValue: > 0.9999

      Comment: Exact values reported in Table S3.

    80. SUPPLEMENTARY DATA

      AssayResult: 92.68

      AssayResultAssertion: Not reported

      PValue: > 0.9999

      Comment: Exact values reported in Table S3.

    81. SUPPLEMENTARY DATA

      AssayResult: 92.03

      AssayResultAssertion: Not reported

      PValue: > 0.9999

      Comment: Exact values reported in Table S3.

    82. SUPPLEMENTARY DATA

      AssayResult: 93.06

      AssayResultAssertion: Not reported

      PValue: > 0.9999

      Comment: Exact values reported in Table S3.

    83. SUPPLEMENTARY DATA

      AssayResult: 86.49

      AssayResultAssertion: Not reported

      PValue: 0.3376

      Comment: Exact values reported in Table S3.

    84. SUPPLEMENTARY DATA

      AssayResult: 76.21

      AssayResultAssertion: Indeterminate

      PValue: 0.0001

      Comment: Exact values reported in Table S3.

    85. SUPPLEMENTARY DATA

      AssayResult: 85.76

      AssayResultAssertion: Indeterminate

      PValue: 0.0445

      Comment: Exact values reported in Table S3.

    86. SUPPLEMENTARY DATA

      AssayResult: 47.64

      AssayResultAssertion: Abnormal

      PValue: < 0.0001

      Comment: Exact values reported in Table S3.

    87. SUPPLEMENTARY DATA

      AssayResult: 86.51

      AssayResultAssertion: Not reported

      PValue: 0.2166

      Comment: Exact values reported in Table S3.

    88. SUPPLEMENTARY DATA

      AssayResult: 97.46

      AssayResultAssertion: Not reported

      PValue: > 0.9999

      Comment: Exact values reported in Table S3.

    89. SUPPLEMENTARY DATA

      AssayResult: 91.53

      AssayResultAssertion: Not reported

      PValue: > 0.9999

      Comment: Exact values reported in Table S3.

    90. SUPPLEMENTARY DATA

      AssayResult: 82.06

      AssayResultAssertion: Indeterminate

      PValue: 0.0058

      Comment: Exact values reported in Table S3.

    91. SUPPLEMENTARY DATA

      AssayResult: 76.45

      AssayResultAssertion: Indeterminate

      PValue: 0.0001

      Comment: Exact values reported in Table S3.

    92. SUPPLEMENTARY DATA

      AssayResult: 86.74

      AssayResultAssertion: Not reported

      PValue: 0.1836

      Comment: Exact values reported in Table S3.

    93. To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).

      HGVS: NM_024675.3:c.3539T>C p.(Ile1180Thr)

    94. To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).

      HGVS: NM_024675.3:c.3428T>C p.(Leu1143Pro)

    95. To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).

      HGVS: NM_024675.3:c.3418T>G p.(Trp1140Gly)

    96. To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).

      HGVS: NM_024675.3:c.3356T>C p.(Leu1119Pro)

    97. To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).

      HGVS: NM_024675.3:c.3342G>C p.(Gln1114His)

    98. To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).

      HGVS: NM_024675.3:c.3314T>C p.(Val1105Ala)

    99. To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).

      HGVS: NM_024675.3:c.3306C>G p.(Ser1102Arg)

    100. To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).

      HGVS: NM_024675.3:c.3278T>C p.(Ile1093Thr)

    101. To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).

      HGVS: NM_024675.3:c.3251C>T p.(Ser1084Leu)

    102. To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).

      HGVS: NM_024675.3:c.3223A>G p.(Ser1075Gly)

    103. To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).

      HGVS: NM_024675.3:c.3128G>C p.(Gly1043Ala)

    104. To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).

      HGVS: NM_024675.3:c.3122A>C p.(Lys1041Thr)

    105. To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).

      HGVS: NM_024675.3:c.3089C>T p.(Thr1030Ile)

    106. To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).

      HGVS: NM_024675.3:c.3073G>A p.(Ala1025Thr)

    107. To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).

      HGVS: NM_024675.3:c.3054G>C p.(Glu1018Asp)

    108. To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).

      HGVS: NM_024675.3:c.3049G>A p.(Ala1017Thr)

    109. To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).

      HGVS: NM_024675.3:c.2993G>A p.(Gly998Glu)

    110. To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).

      HGVS: NM_024675.3:c.2896A>G p.(Ile966Val)

    111. To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).

      HGVS: NM_024675.3:c.2865T>A p.(Ser955Arg)

    112. To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).

      HGVS: NM_024675.3:c.2841G>C p.(Leu947Phe)

    113. To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).

      HGVS: NM_024675.3:c.2840T>C p.(Leu947Ser)

    114. To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).

      HGVS: NM_024675.3:c.2816T>G p.(Leu939Trp)

    115. To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).

      HGVS: NM_024675.3:c.2794G>A p.(Val932Met)

    116. To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).

      HGVS: NM_024675.3:c.2590C>T p.(Pro864Ser)

    117. To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).

      HGVS: NM_024675.3:c.956C>A p.(Ser319Tyr)

    118. To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).

      HGVS: NM_024675.3:c.949A>C p.(Thr317Pro)

    119. To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).

      HGVS: NM_024675.3:c.629C>T p.(Pro210Leu)

    120. To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).

      HGVS: NM_024675.3:c.620C>G p.(Pro207Arg)

    121. To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).

      HGVS: NM_024675.3:c.505C>A p.(Leu169Ile)

    122. To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).

      HGVS: NM_024675.3:c.371C>T p.(Thr124Ile)

    123. To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).

      HGVS: NM_024675.3:c.344G>T p.(Gly115Val)

    124. To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).

      HGVS: NM_024675.3:c.280G>A p.(Glu94Lys)

    125. To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).

      HGVS: NM_024675.3:c.242A>G p.(Lys81Arg)

    126. To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).

      HGVS: NM_024675.3:c.232G>A p.(Val78Ile)

    127. To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).

      HGVS: NM_024675.3:c.226A>G p.(Ile76Val)

    128. To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).

      HGVS: NM_024675.3:c.194C>T p.(Pro65Leu)

    129. To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).

      HGVS: NM_024675.3:c.136C>T p.(His46Tyr)

    130. To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).

      HGVS: NM_024675.3:c.110G>A p.(Arg37His)

    131. To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).

      HGVS: NM_024675.3:c.104T>C p.(Leu35Pro)

    132. To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).

      HGVS: NM_024675.3:c.94C>G p.(Leu32Val)

    133. To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).

      HGVS: NM_024675.3:c.90G>T p.(Lys30Asn)

    134. To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).

      HGVS: NM_024675.3:c.83A>G p.(Tyr28Cys)

    135. To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).

      HGVS: NM_024675.3:c.53A>G p.(Lys18Arg)

    136. To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).

      HGVS: NM_024675.3:c.23C>T p.(Pro8Leu)

    137. To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).

      HGVS: NM_024675.3:c.11C>T p.(Pro4Leu)

    Tags

    Annotators

    URL

    1. While 3 VUS (p.W912G, p.L961P, and p.G1043D) had a dramatic impact on the percentage of cells showing RAD51 foci, 2 VUS (p.G937R and p.L947S) displayed a more minor effect.

      AssayResult: 19.52 foci/cell

      AssayResultAssertion: Indeterminate (described as "minor effect")

      Range: 0 - 70

      Comment: Exact values reported in "Source Data" file

    2. While 3 VUS (p.W912G, p.L961P, and p.G1043D) had a dramatic impact on the percentage of cells showing RAD51 foci, 2 VUS (p.G937R and p.L947S) displayed a more minor effect.

      AssayResult: 15.80 foci/cell

      AssayResultAssertion: Indeterminate (described as "minor effect")

      Range: 0 - 74

      Comment: Exact values reported in "Source Data" file

    3. While 3 VUS (p.W912G, p.L961P, and p.G1043D) had a dramatic impact on the percentage of cells showing RAD51 foci, 2 VUS (p.G937R and p.L947S) displayed a more minor effect.

      AssayResult: 13.96 foci/cell

      AssayResultAssertion: Abnormal

      Range: 0 - 69

      Comment: Exact values reported in "Source Data" file

    4. While 3 VUS (p.W912G, p.L961P, and p.G1043D) had a dramatic impact on the percentage of cells showing RAD51 foci, 2 VUS (p.G937R and p.L947S) displayed a more minor effect.

      AssayResult: 3.19 foci/cell

      AssayResultAssertion: abnormal

      Range: 0 - 32

      Comment: Exact values reported in "Source Data" file

    5. While 3 VUS (p.W912G, p.L961P, and p.G1043D) had a dramatic impact on the percentage of cells showing RAD51 foci, 2 VUS (p.G937R and p.L947S) displayed a more minor effect.

      AssayResult: 1.24 foci/cell

      AssayResultAssertion: Abnormal

      Range: 0 - 25

      Comment: Exact values reported in "Source Data" file

    6. Following exposure to IR, the average number of RAD51 foci was scored in cyclin-A- and YFP-PALB2-expressing S-phase cells

      AssayResult: 24.90 foci/cell

      AssayResultAssertion: Normal

      Range: 1 - 90

      ControlType: Normal; wild type PALB2 cDNA

      Comment: Exact values reported in "Source Data" file

    7. To further assess the impact of the 5 selected VUS on PALB2, we examined whether they affected the accumulation of RAD51 at IR-induced DSBs by measuring the formation RAD51 foci.

      AssayGeneralClass: BAO:0000450 fluorescence microscopy

      AssayMaterialUsed: CLO:0003684 HeLa cell

      AssayDescription: Transient expression of wild type and variant PALB2 cDNA constructs in HeLa cells following PALB2 siRNA knockdown; exposure ionizing radiation induces DNA damage; RAD51 foci formation is measured by immunofluorescence microscopy 4 h after irradiation

      AssayReadOutDescription: Number of RAD51 foci per S-phase cell (determined by cyclin A detection)

      AssayRange: foci/cell

      AssayNormalRange: RAD51 foci numbers comparable to that of cells expressing wild type PALB2; no numeric threshold given

      AssayAbnormalRange: RAD51 foci numbers comparable to that of cells expressing empty vector; no numeric threshold given

      AssayIndeterminateRange: Not reported

      ValidationControlPathogenic: 0

      ValidationControlBenign: 0

      Replication: 3 independent experiments

      StatisticalAnalysisDescription: Not reported

    8. analyzed several PALB2 variants in their response to the ICL-inducing agent cisplatin

      AssayGeneralClass: BAO:0002805 cell proliferation assay

      AssayMaterialUsed: CLO:0037317 mouse embryonic stem cell line

      AssayDescription: Stable expression of wild type and variant PALB2 cDNA constructs in Trp53 and Palb2-null mouse cell line containing DR-GFP reporter; exposure to cisplatin for 48 h induces interstrand-crosslink DNA damage; cell survival is measured by FACS 24 h after cisplatin washout

      AssayReadOutDescription: Relative resistance to cisplatin represented as cell survival relative to wild type, which was set to 100%

      AssayRange: %

      AssayNormalRange: Cisplatin resistance levels comparable to that of cells expressing wild type PALB2; no numeric threshold given

      AssayAbnormalRange: Cisplatin resistance levels comparable to that of cells expressing empty vector; no numeric threshold given

      AssayIndeterminateRange: Not reported

      ValidationControlPathogenic: 2

      ValidationControlBenign: 2

      Replication: 2 independent experiments

      StatisticalAnalysisDescription: Not reported

    9. sensitivity to PARPi treatment using a cellular proliferation assay

      AssayGeneralClass: BAO:0002805 cell proliferation assay

      AssayMaterialUsed: CLO:0037317 mouse embryonic stem cell line

      AssayDescription: Stable expression of wild type and variant PALB2 cDNA constructs in Trp53 and Palb2-null mouse cell line containing DR-GFP reporter; exposure to PARP inhibitor Olaparib for 48 h inhibits end-joining mediated by PARP and sensitizes cells to DNA damage; cell survival is measured by FACS 24 h after Olaparib washout

      AssayReadOutDescription: Relative resistance to PARPi represented as cell survival relative to wild type, which was set to 100%

      AssayRange: %

      AssayNormalRange: PARPi resistance levels comparable to that of cells expressing wild type PALB2; no numeric threshold given

      AssayAbnormalRange: PARPi resistance levels ≤30% of wild type

      AssayIndeterminateRange: Not reported

      ValidationControlPathogenic: 12

      ValidationControlBenign: 9

      Replication: 2 independent experiments

      StatisticalAnalysisDescription: Not reported

    10. A cell-based functional assay for PALB2 variants

      AssayGeneralClass: BAO:0003061 reporter protein

      AssayMaterialUsed: CLO:0037317 mouse embryonic stem cell line

      AssayDescription: Stable expression of wild type and variant PALB2 cDNA constructs in Trp53 and Palb2-null mouse cell line containing DR-GFP reporter; I-SceI endonuclease introduces a double-stranded break in the reporter construct and efficient repair results in GFP expression, which is detected by flow cytometry

      AssayReadOutDescription: Relative homologous recombination (HR) efficiency represented as mean percentages of GFP-positive cells among the mCherry-positive cells relative to wild type, which was set to 100%

      AssayRange: %

      AssayNormalRange: HR levels comparable to that of cells expressing wild type PALB2; no numeric threshold given

      AssayAbnormalRange: HR levels ≤40% of wild type

      AssayIndeterminateRange: Not reported

      ValidationControlPathogenic: 12

      ValidationControlBenign: 9

      Replication: 2 independent experiments

      StatisticalAnalysisDescription: Not reported

    11. Heterozygous carriers of germ-line loss-of-function variants in the DNA repair gene PALB2 are at a highly increased lifetime risk for developing breast cancer.

      Gene: PALB2

      Disease: Hereditary breast carcinoma

      MONDO: MONDO:0016419

      InheritancePattern: Autosomal dominant

    12. Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2
    13. Source Data

      AssayResult: 128.59

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 14.72

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

    14. Source Data

      AssayResult: 19.43

      AssayResultAssertion: Abnormal

      ReplicateCount: 5

      StandardErrorMean: 4.42

      ControlType: Abnormal; empty vector

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

    15. Source Data

      AssayResult: 100

      AssayResultAssertion: Normal

      ReplicateCount: 6

      StandardErrorMean: 0

      ControlType: Normal; wild type PALB2 cDNA

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

    16. Source Data

      AssayResult: 84.05

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 16.48

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

    17. Source Data

      AssayResult: 97.73

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 5.41

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

    18. Source Data

      AssayResult: 19.53

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 8.56

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

    19. Source Data

      AssayResult: 119.03

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 6.12

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

    20. Source Data

      AssayResult: 37.28

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 11.28

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

    21. Source Data

      AssayResult: 111.51

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 7.63

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

    22. Source Data

      AssayResult: 80.44

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 9.06

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

    23. Source Data

      AssayResult: 27.29

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 6.53

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

    24. Source Data

      AssayResult: 102.2

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 12.81

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

    25. Source Data

      AssayResult: 112.08

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 4.1

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

    26. Source Data

      AssayResult: 87.4

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 0.88

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

    27. Source Data

      AssayResult: 100.97

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 7.27

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

    28. Source Data

      AssayResult: 20.08

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 6.84

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

    29. Source Data

      AssayResult: 89.72

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 7.95

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

    30. Source Data

      AssayResult: 93.33

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 11

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

    31. Source Data

      AssayResult: 83.16

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 0.2

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

    32. Source Data

      AssayResult: 26.03

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 11.42

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

    33. Source Data

      AssayResult: 24.27

      AssayResultAssertion: Abnormal

      ReplicateCount: Not reported

      StandardErrorMean: Not reported

      Comment: Exact values reported in “Supplementary Data 1” file; result for this variant not reported in “Source Data” file.

    34. Source Data

      AssayResult: 96.22

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 16.7

      Comment: Exact values reported in “Source Data” file. Discrepancy in “Supplementary Data 1” file: nucleotide reported as c.3191A>G.

    35. 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.

    36. Source Data

      AssayResult: 52.23

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 6.33

      Comment: Exact values reported in “Source Data” file. Discrepancy in “Source Data” file: protein reported as I1037R.

    37. Source Data

      AssayResult: 74.36

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 1.89

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

    38. Source Data

      AssayResult: 87.27

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 1.3

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

    39. Source Data

      AssayResult: 17.29

      AssayResultAssertion: Abnormal

      ReplicateCount: 3

      StandardErrorMean: 6.81

      ControlType: Abnormal; empty vector (set 5)

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

    40. Source Data

      AssayResult: 7.86

      AssayResultAssertion: Abnormal

      ReplicateCount: 3

      StandardErrorMean: 2.39

      ControlType: Abnormal; empty vector (set 4)

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

    41. Source Data

      AssayResult: 34.03

      AssayResultAssertion: Abnormal

      ReplicateCount: 3

      StandardErrorMean: 10.86

      ControlType: Abnormal; empty vector (set 3)

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

    42. Source Data

      AssayResult: 12.78

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 3.65

      ControlType: Abnormal; empty vector (set 2)

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

    43. Source Data

      AssayResult: 10.93

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 0.78

      ControlType: Abnormal; empty vector (set 1)

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

    44. Source Data

      AssayResult: 100

      AssayResultAssertion: Normal

      ReplicateCount: 38

      StandardErrorMean: 0

      ControlType: Normal; wild type

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

    45. Source Data

      AssayResult: 102.22

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 8.29

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

    46. Source Data

      AssayResult: 21.7

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 1.42

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

    47. Source Data

      AssayResult: 55.4

      AssayResultAssertion: Not reported

      ReplicateCount: 4

      StandardErrorMean: 13.29

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

    48. Source Data

      AssayResult: 17.5

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 7.75

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

    49. Source Data

      AssayResult: 102.7

      AssayResultAssertion: Not reported

      ReplicateCount: 3

      StandardErrorMean: 12.82

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

    50. Source Data

      AssayResult: 94.47

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 0.99

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

    51. Source Data

      AssayResult: 13.87

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 1.32

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

    52. Source Data

      AssayResult: 93.44

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 2.24

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

    53. Source Data

      AssayResult: 9.67

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 1.31

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

    54. Source Data

      AssayResult: 109.07

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 9.27

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

    55. Source Data

      AssayResult: 98.64

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 5.5

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

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