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Table 2 Summary of functional analyses on BRCA1 unclassified variants

From: Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?

BRCA1 variant

Expression (RNA and protein)

BRCT structure (trypsin sensitivity)

Transcription activation activity

Nuclear foci formation

Centrosome amplification

Conclusion

BRCA1 5215 G>A (R1699Q)

Wild-type

Destabilised

Intermediate activity

Defective

Wild-type

Intermediate on 1 and defective on 2 of 5 criteria

BRCA1 5242 C>T (A1708V)

Wild-type

Wild-type

Intermediate activity

Normal

Positive

Intermediate on 1 and defective on 1 of 5 criteria

BRCA1 5242 C>A (A1708E)

Wild-type

Destabilised

No activity

Defectivea

Positive

Defective on 4 of 5 criteria

BRCA1 5331 G>A (G1738R)

Wild-type

Destabilised

No activity

Defective

Positive

Defective on 4 of 5 criteria

  1. aResults from assays performed in Lovelock and colleagues [3].