Table 1.

Functional classification of BRCA1 VUS based on cisplatin response

VariantDNA changeType of mutationaClassification
S4Fc.11C>TVUSNot Clear
M18Tc.53T>CVUSDeleterious
185delAGc.68_69delAGDeleterious controlDeleteriousb
K45Qc.133A>CVUSNeutral
C61Gc.181T>GDeleterious controlDeleterious
C64Gc.190T>GVUSDeleteriousb
D67Yc.199G>TVUSNeutral
Y105Cc.314A>GNeutral controlNeutral
N132Kc.396C>AVUSNeutral
P142Hc.425C>AVUSNeutral
L147Fc.441G>CVUSNeutral
L165Pc.494T>CVUSNeutral
R170Wc.508C>TVUSNeutral
S186Yc.557C>AVUSNeutral
V191Ic.571G>AVUSNeutral
T231Mc.692C>TVUSNeutral
D245Vc.734A>TVUSNeutral
L246Vc.736T>GVUSNeutral
V271Lc.811G>CVUSNeutral
S308Ac.922A>G; c.923G>CArtificialhNot Clear
L358R; C360R; E362Hc.1073T>G; c.1078T>C; c.1084G>C; c.1086G>TArtificialNeutral
L668Fc.2002C>TVUSNeutral
D695Nc.2083G>AVUSNeutral
P798Lc.2393C>TVUSNeutral
N810Yc.2428A>TVUSNeutral
T826Kc.2477C>AVUSNeutral
R841Qc.2522G>AVUSNeutral
Y856Hc.2566T>CVUSNeutral
R866Cc.2596C>TNeutral controlNeutral
S988Ac.2962T>GArtificialNeutral
M1008Ic.3024G>AVUSNeutral
E1060Ac.3179A>CVUSNeutral
S1101Nc.3302G>AVUSNeutral
K1110delc.3328_3330delAAGVUSNeutral
S1140Gc.3418A>GVUSNeutral
E1214Kc.3640G>AVUSNeutral
N1236Kc.3708T>GVUSNeutral
E1250Kc.3748G>ANeutral controlNeutral
L1267Sc.3800T>CVUSNeutral
E1282Vc.3845A>TVUSNeutral
S1297delc.3891_3893delTTCVUSNeutral
S1301Rc.3903T>AVUSNeutral
E1346Kc.4036G>AVUSNeutral
V1378Ic.4132G>AVUSNeutral
M1400Vc.4198A>GVUSNeutral
L1407Pc.4220T>CVUSNeutralb
M1411Tc.4232T>CVUSNeutral
R1443Gc.4327C>GVUSNeutral
S1448Gc.4342A>GVUSNeutral
S1486Cc.4456A>TVUSNeutral
S1497Ac.4489T>GArtificialNeutral
V1534Mc.4600G>AVUSNeutral
R1589Pc.4766G>CVUSNeutral
M1628Tc.4883T>CVUSNeutral
S1651Pc.4951T>CVUSNot Clear
S1651Fc.4952C>TVUSNot Clear
M1652Ic.4956G>AVUSNeutral
S1655Fc.4964C>TVUSDeleteriousb
H1686Rc.5057A>GVUSDeleterious
H1686Qc.5058T>AVUSDeleterious
V1688delc.5062_5064delGTTVUSDeleterious
T1691Ic.5072C>TVUSNot clear
R1699Wc.5095C>TDeleterious controlDeleteriousb
R1699Qc.5096G>AVUSDeleteriousb
G1706Ec.5117G>AVUSDeleteriousb
G1706Ac.5117G>CVUSNeutral
A1708Ec.5123C>ADeleterious controlDeleterious
W1718Cc.5154G>TVUSDeleterious
T1720Ac.5158A>GVUSNeutral
E1735Kc.5203G>AVUSNot clear
V1736Ac.5207T>CVUSNot clearb
D1739Gc.5216A>GVUSDeleterious
D1739Vc.5216A>TVUSDeleterious
H1746Qc.5238C>GVUSNot clear
R1753Tc.5258G>CVUSNot clearb
5382insCc.5266dupCDeleterious controlNot clearb
L1764Pc.5291T>CVUSDeleteriousb
C1767Sc.5300G>CVUSNeutral
G1770Vc.5309G>TVUSDeleteriousb
W1782Cc.5346G>TVUSNeutral
A1789Tc.5365G>AVUSDeleterious
E1794Dc.5382G>CVUSNeutral
V1804Dc.5411T>AVUSNeutral
P1812Rc.5435C>GVUSNeutral
W1837Rc.5509T>CVUSDeleterious
H1862Lc.5585A>TVUSNeutral
  • aType of mutation indicates if a variant is a VUS according to the BIC database (http://research.nhgri.nih.gov/bic/).

  • bFunctionally impaired in the DR-GFP and/or combined PARP inhibitor/cisplatin sensitivity assay.