Table 4

 Previously classified variants in BRCA1

VariantStatusGrantham chemical difference33note
M1Rdeleterious91disrupts initiation
M1Tdeleterious81disrupts initiation
M1Ideleterious10disrupts initiation
C39Rdeleterious180C3HC4 RING finger canonical residue
C39Sdeleterious112C3HC4 RING finger canonical residue
C39Ydeleterious194C3HC4 RING finger canonical residue
H41Rdeleterious29C3HC4 RING finger canonical residue
C44Fdeleterious205C3HC4 RING finger canonical residue
C47Fdeleterious205C3HC4 RING finger canonical residue
C61Gdeleterious159C3HC4 RING finger canonical residue
C61Ydeleterious194C3HC4 RING finger canonical residue
C64Rdeleterious180C3HC4 RING finger canonical residue
C64Ydeleterious194C3HC4 RING finger canonical residue
R71Gdeleterious125deleterious due to splice junction effect34
Q356Rneutral or of little clinical significance43 35
D693Nneutral or of little clinical significance23 35
K820Eneutral or of little clinical significance56internal (Myriad) ethnic control study
Y856Hneutral or of little clinical significance83 36
P871Lneutral or of little clinical significance98 35
E1038Dneutral or of little clinical significance45E&D very similar, known polymorphic position
E1038Gneutral or of little clinical significance98 35
S1040Nneutral or of little clinical significance46 35
S1140Gneutral or of little clinical significance56 37
K1183Rneutral or of little clinical significance26 35
R1347Gneutral or of little clinical significance125 38, 39
R1495Ndeleterious91deleterious due to splice junction effect
S1512Ineutral or of little clinical significance142 39
E1559Qdeleterious29deleterious due to splice junction effect
S1613Gneutral or of little clinical significance56 35
M1652Ineutral or of little clinical significance10 39
D1692Ndeleterious23deleterious due to splice junction effect
D1692Ydeleterious160deleterious due to splice junction effect
R1699Wdeleterious10129 & Myriad segregation analysis
A1708Edeleterious107 29, 40
M1775Rdeleterious91 26