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
Source Data
AssayResult: 37.28
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 11.28
Comment: Exact values reported in “Source Data” file.
Source Data
AssayResult: 10.42
AssayResultAssertion: Abnormal
ReplicateCount: 2
StandardErrorMean: 0.01
Comment: Exact values reported in “Source Data” file.
Source Data
AssayResult: 10.59
AssayResultAssertion: Abnormal
ReplicateCount: 2
StandardDeviation: 0.6
StandardErrorMean: 0.43
Comment: Exact values reported in “Source Data” file.
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.3128G>A p.(G1043D)