|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
8 |
c.535T>C |
654T>C |
p.Y179H |
0.005959375 |
2 - Likely not pathogenic or of little clinical significance |
Parsons et al 2019 |
- |
0.02 |
- |
0.02 |
0.02 |
- |
0.29376 |
- |
- |
- |
0.29376 |
- |
BRCA1_00584 |
8 |
c.536A>G |
655A>G |
p.Y179C |
0.00000 |
1 - Not pathogenic or of no clinical significance |
Spurdle et al. 2008 |
Tavtigian et al. 2008 |
0.02 |
0.01 |
0.00 |
0.02 |
0.0007 |
0.143 |
- |
8.49E-07 |
- |
8.49849E-11 |
- |
BRCA1_00031 |
8 |
c.547+1G>T |
IVS8+1G>T |
- |
0.99058587 |
5 - Pathogenic |
Parsons et al 2019 |
- |
- |
0.97 |
0.02 |
0.97 |
1.9487 |
1.67 |
- |
- |
- |
3.254329 |
- |
BRCA1_00601 |
8 |
c.548-16G>A |
IVS8-16G>A |
- |
0.220879692 |
3 - Uncertain |
Parsons et al 2019 |
- |
- |
0.5 |
0.02 |
0.5 |
- |
- |
0.274417782 |
1.033092037 |
- |
0.283498825 |
- |
BRCA1_00604 |
8 |
c.548-13G>T |
IVS8-13G>T |
- |
0.011738473 |
2 - Likely not pathogenic or of little clinical significance |
Parsons et al 2019 |
- |
- |
0.04 |
0.02 |
0.04 |
- |
- |
0.275938267 |
1.033092037 |
- |
0.285069626 |
- |
BRCA1_00603 |
8 |
c.548-9del |
IVS8-9delA |
- |
- |
- |
Parsons et al 2019 |
- |
- |
- |
0.02 |
0.04 |
- |
- |
0.907130133 |
1.297514181 |
- |
1.177014211 |
- |
BRCA1_00606 |
8 |
c.548-3del |
IVS8-3delT |
- |
- |
- |
Parsons et al 2019 |
- |
- |
- |
0.02 |
0.5 |
- |
- |
0.594053557 |
1.034 |
- |
0.614251378 |
- |
BRCA1_00702 |
9 |
c.548-17G>T |
IVS8-17G>T |
- |
0.000 |
1 - Not pathogenic or of no clinical significance |
Easton et al. 2007 |
Vallee et al. 2016 |
- |
0.04 |
0.00 |
0.04 |
1 |
- |
3.80E-05 |
0.02 |
- |
9.12E-07 |
- |
BRCA1_00135 |
9 |
c.551C>T |
670C>T |
p.S184C |
- |
- |
Parsons et al 2019 |
- |
0.02 |
- |
0.02 |
0.02 |
- |
0.64 |
- |
- |
- |
0.64 |
- |
BRCA1_00611 |
9 |
c.557C>A |
676C>A |
p.S186Y |
0.00000 |
1 - Not pathogenic or of no clinical significance |
Easton et al. 2007 |
Tavtigian et al. 2008 |
0.02 |
0.13 |
0.00 |
0.13 |
0.00501 |
- |
0.00027 |
0.00029 |
- |
3.92283E-10 |
- |
BRCA1_00057 |
9 |
c.571G>A |
690G>A |
p.V191I |
0.00000 |
1 - Not pathogenic or of no clinical significance |
Easton et al. 2007 |
Tavtigian et al. 2008 |
0.02 |
0.01 |
0.00 |
0.02 |
0.0955 |
- |
0.0138 |
0.00589 |
- |
7.76243E-6 |
- |
BRCA1_00058 |
9 |
c.572T>A |
691T>A |
p.V191G |
- |
- |
Parsons et al 2019 |
- |
0.02 |
- |
0.02 |
0.02 |
- |
- |
0.648011368 |
1.102597599 |
- |
0.714495779 |
- |
BRCA1_00620 |
9 |
c.593+3G>A |
IVS9+3G>A |
- |
0.013077573 |
2 - Likely not pathogenic or of little clinical significance |
Parsons et al 2019 |
- |
- |
0.04 |
0.02 |
0.04 |
- |
- |
0.279189646 |
1.1390848 |
- |
0.318020682 |
- |
BRCA1_00703 |
9 |
c.593+4A>G |
IVS9+4A>G |
- |
0.001 |
2 - Likely not pathogenic or of little clinical significance |
Whiley et al., 2011 |
Vallee et al. 2016 |
- |
0.04 |
0.00 |
0.04 |
0.62 |
0.18 |
0.2 |
1.1 |
- |
0.025 |
- |
BRCA1_00125 |
9 |
c.593+9A>G |
IVS9+9A>G |
- |
0.002178433 |
2 - Likely not pathogenic or of little clinical significance |
Parsons et al 2019 |
- |
- |
- |
0.02 |
0.02 |
- |
- |
0.093914219 |
1.1390848 |
- |
0.10697626 |
- |
BRCA1_00624 |
9 |
c.593+10A>G |
IVS9+10A>G |
- |
0.009418329 |
2 - Likely not pathogenic or of little clinical significance |
Parsons et al 2019 |
- |
- |
- |
0.02 |
0.02 |
- |
- |
0.450962699 |
1.033092037 |
- |
0.465885974 |
- |
BRCA1_00621 |
9 |
c.593+16C>G |
IVS9+16C>G |
- |
0.07773386 |
3 - Uncertain |
Parsons et al 2019 |
- |
- |
- |
0.02 |
0.02 |
- |
4.13 |
- |
- |
- |
4.13 |
- |
BRCA1_00622 |
9 |
c.594-60del |
IVS9-62delT |
- |
- |
- |
Parsons et al 2019 |
- |
- |
- |
0.02 |
0.02 |
1.1841 |
- |
- |
- |
- |
1.1841 |
- |
BRCA1_00627 |
9 |
c.594-20A>G |
IVS9-20A>G |
- |
- |
- |
Parsons et al 2019 |
- |
- |
0.04 |
0.02 |
0.04 |
- |
- |
0.641810162 |
1.102597599 |
- |
0.707658344 |
- |
BRCA1_00625 |
9 |
c.594-4A>G |
IVS9-4A>G |
- |
- |
- |
Parsons et al 2019 |
- |
- |
0.04 |
0.02 |
0.04 |
- |
- |
1.237417811 |
1.024615386 |
- |
1.267877327 |
- |
BRCA1_00704 |
10 |
c.601G>A |
720G>A |
p.D201N |
- |
- |
Parsons et al 2019 |
- |
0.02 |
- |
0.02 |
0.02 |
- |
- |
0.652827954 |
1.033092037 |
- |
0.674431361 |
- |
BRCA1_00628 |
10 |
c.668A>G |
787A>G |
p.K223R |
- |
- |
Parsons et al 2019 |
- |
0.02 |
0.34 |
0.02 |
0.34 |
0.6738 |
1.8277 |
- |
- |
- |
1.23150426 |
- |
BRCA1_00716 |
10 |
c.670+8C>T |
IVS10+8C>T |
- |
- |
- |
Parsons et al 2019 |
- |
- |
- |
0.02 |
0.02 |
- |
- |
0.652827954 |
1.033092037 |
- |
0.674431361 |
- |
BRCA1_00476 |
10 |
c.670+16G>A |
IVS10+16G>A |
- |
1.35079E-06 |
1 - Not pathogenic or of no clinical significance |
Parsons et al 2019 |
- |
- |
- |
0.02 |
0.02 |
0.0001043 |
0.6346 |
- |
- |
- |
0.0000661888 |
- |
BRCA1_00474 |
10 |
c.671-15T>A |
IVS10-15T>A |
- |
0.146226682 |
3 - Uncertain |
Parsons et al 2019 |
- |
- |
0.34 |
0.02 |
0.34 |
- |
- |
0.321817793 |
1.033092037 |
- |
0.3324674 |
- |
BRCA1_00633 |
|
DNA change |
|

 | |
|
|
|
|
Key Observational Reference |
 |

 | |
|
Missense analysis Prior P |
 |

 | |
|
|
|
|
|
|
|
|
|
|
|
10 |
c.671-12del |
IVS10-12delG |
- |
- |
- |
Parsons et al 2019 |
- |
- |
- |
0.02 |
0.34 |
- |
- |
0.482525023 |
1.067279157 |
- |
0.5149889 |
- |
BRCA1_00632 |
10 |
c.671-2A>G |
IVS10-2A>G |
- |
0.198606647 |
3 - Uncertain |
Parsons et al 2019 |
- |
- |
0.97 |
0.02 |
0.97 |
0.0112 |
0.684352 |
- |
- |
- |
0.007664742 |
- |
BRCA1_00635 |
10 |
c.671-1G>T |
IVS10-1G>T |
- |
- |
- |
Parsons et al 2019 |
- |
- |
0.97 |
0.02 |
0.97 |
- |
- |
1.27958483 |
1.033092037 |
- |
1.321928898 |
- |
BRCA1_00634 |
11 |
c.692C>T |
811C>T |
p.T231R |
0.162017475 |
3 - Uncertain |
Parsons et al 2019 |
- |
0.02 |
- |
0.02 |
0.02 |
- |
- |
6.841208668 |
1.384809842 |
- |
9.473773094 |
- |
BRCA1_00705 |
11 |
c.706A>T |
825A>T |
p.T236A |
- |
- |
Parsons et al 2019 |
- |
0.02 |
- |
0.02 |
0.02 |
- |
- |
1.637211837 |
1.033092037 |
- |
1.691390512 |
- |
BRCA1_00638 |
11 |
c.716A>G |
835A>G |
p.H239R |
0.000925328 |
1 - Not pathogenic or of no clinical significance |
Parsons et al 2019 |
- |
0.02 |
- |
0.02 |
0.02 |
0.9986 |
- |
0.041217819 |
1.102597599 |
- |
0.045383043 |
- |
BRCA1_00639 |
11 |
c.722C>T |
841C>T |
p.P241R |
0.005305792 |
2 - Likely not pathogenic or of little clinical significance |
Parsons et al 2019 |
- |
0.02 |
- |
0.02 |
0.02 |
- |
- |
0.252998366 |
1.033092037 |
- |
0.261370597 |
- |
BRCA1_00640 |
11 |
c.734A>T |
853A>T |
p.D245G |
- |
- |
Parsons et al 2019 |
- |
0.02 |
- |
0.02 |
0.02 |
1.2834 |
- |
- |
- |
- |
1.2834 |
- |
BRCA1_00706 |
11 |
c.736T>G |
855T>G |
p.L246V |
0.00000 |
1 - Not pathogenic or of no clinical significance |
Tavtigian et al. 2006 |
Tavtigian et al. 2008 |
0.02 |
0.01 |
0.00 |
0.02 |
- |
- |
- |
2.60E-05 |
- |
2.60000E-5 |
- |
BRCA1_00017 |
11 |
c.743C>A |
862C>A |
p.T248N |
0.271662993 |
3 - Uncertain |
Parsons et al 2019 |
- |
0.02 |
- |
0.02 |
0.02 |
- |
- |
17.69111354 |
1.033092037 |
- |
18.27654853 |
- |
BRCA1_00642 |
11 |
c.755G>A |
874G>A |
p.R252H |
- |
- |
Parsons et al 2019 |
- |
0.02 |
- |
0.02 |
0.02 |
- |
- |
0.483405811 |
1.176779436 |
- |
0.568862018 |
- |
BRCA1_00707 |
11 |
c.792T>A |
911T>A |
p.S264R |
0.007763538 |
2 - Likely not pathogenic or of little clinical significance |
Parsons et al 2019 |
- |
0.02 |
- |
0.02 |
0.02 |
- |
- |
0.371109079 |
1.033092037 |
- |
0.383389834 |
- |
BRCA1_00644 |
11 |
c.804C>G |
923C>G |
p.N268K |
- |
- |
Parsons et al 2019 |
- |
0.02 |
- |
0.02 |
0.02 |
0.8501 |
0.64 |
- |
- |
- |
0.544064 |
- |
BRCA1_00650 |
11 |
c.817C>T |
936C>T |
p.P273A |
- |
- |
Parsons et al 2019 |
- |
0.02 |
- |
0.02 |
0.02 |
- |
- |
1.455963655 |
1.033092037 |
- |
1.504144459 |
- |
BRCA1_00658 |
11 |
c.823G>A |
942G>A |
p.G275S |
0.004267425 |
2 - Likely not pathogenic or of little clinical significance |
Parsons et al 2019 |
- |
0.02 |
- |
0.02 |
0.02 |
- |
0.21 |
- |
- |
- |
0.21 |
- |
BRCA1_00661 |
11 |
c.824G>A |
943G>A |
p.G275D |
0.007695754 |
2 - Likely not pathogenic or of little clinical significance |
Parsons et al 2019 |
- |
0.02 |
- |
0.02 |
0.02 |
- |
- |
0.274417782 |
1.384809842 |
- |
0.380016445 |
- |
BRCA1_00662 |
11 |
c.827C>G |
946C>G |
p.T276R |
4.5123E-05 |
1 - Not pathogenic or of no clinical significance |
Parsons et al 2019 |
- |
0.02 |
- |
0.02 |
0.02 |
0.3303 |
0.196 |
0.029984209 |
1.1390848 |
- |
0.002211125 |
- |
BRCA1_00663 |
11 |
c.839C>G |
958C>G |
p.A280G |
0.00008 |
1 - Not pathogenic or of no clinical significance |
Easton et al. 2007 |
Tavtigian et al. 2008 |
0.02 |
0.01 |
0.00 |
0.02 |
1 |
- |
1.15 |
0.00324 |
- |
0.00373 |
- |
BRCA1_00059 |
11 |
c.890T>A |
1009T>A |
p.M297R |
- |
- |
Parsons et al 2019 |
- |
0.02 |
- |
0.02 |
0.02 |
- |
- |
0.779710926 |
1.067279157 |
- |
0.83216922 |
- |
BRCA1_00665 |
11 |
c.891G>A |
1010G>A |
p.M297I |
0.00006 |
1 - Not pathogenic or of no clinical significance |
Easton et al. 2007 |
Tavtigian et al. 2008 |
0.02 |
0.01 |
0.00 |
0.02 |
- |
- |
1 |
0.00316 |
- |
0.00316 |
- |
BRCA1_00118 |
11 |
c.891G>T |
1010G>T |
p.M297I |
0.000632084 |
1 - Not pathogenic or of no clinical significance |
Parsons et al 2019 |
- |
0.02 |
- |
0.02 |
0.02 |
- |
- |
0.989966332 |
0.031305819 |
- |
0.030991707 |
- |
BRCA1_00666 |
11 |
c.902A>G |
1021A>G |
p.K301R |
- |
- |
Parsons et al 2019 |
- |
0.02 |
- |
0.02 |
0.02 |
- |
- |
0.718851415 |
1.067279157 |
- |
0.767215132 |
- |
BRCA1_00667 |
11 |
c.924C>A |
1043C>A |
p.S308R |
0.107180777 |
3 - Uncertain |
Parsons et al 2019 |
- |
0.02 |
- |
0.02 |
0.02 |
- |
- |
5.693907831 |
1.033092037 |
- |
5.882330841 |
- |
BRCA1_00668 |
11 |
c.932C>T |
1051C>T |
p.P311R |
0.003119227 |
2 - Likely not pathogenic or of little clinical significance |
Parsons et al 2019 |
- |
0.02 |
- |
0.02 |
0.02 |
- |
- |
0.143655352 |
1.067279157 |
- |
0.153320363 |
- |
BRCA1_00669 |
11 |
c.946A>G |
1065A>G |
p.S316G |
2.2104E-06 |
1 - Not pathogenic or of no clinical significance |
Parsons et al 2019 |
- |
0.02 |
- |
0.02 |
0.02 |
0.0135756 |
0.015497798 |
0.235668619 |
2.184420982 |
- |
0.00010831 |
- |
BRCA1_00713 |
|
DNA change |
|

 | |
|
|
|
|
Key Observational Reference |
 |

 | |
|
Missense analysis Prior P |
 |

 | |
|
|
|
|
|
|
|
|
|
|
|
11 |
c.955A>G |
1074A>G |
p.N319D |
0.007039269 |
2 - Likely not pathogenic or of little clinical significance |
Parsons et al 2019 |
- |
0.02 |
- |
0.02 |
0.02 |
- |
- |
0.336242476 |
1.033092037 |
- |
0.347369424 |
- |
BRCA1_00671 |
11 |
c.964G>A |
1083G>A |
p.A322T |
0.005925472 |
2 - Likely not pathogenic or of little clinical significance |
Parsons et al 2019 |
- |
0.02 |
- |
0.02 |
0.02 |
- |
- |
0.26490064 |
1.102597599 |
- |
0.292078809 |
- |
BRCA1_00672 |
11 |
c.964G>C |
1083G>C |
p.A322P |
0.004949383 |
2 - Likely not pathogenic or of little clinical significance |
Parsons et al 2019 |
- |
0.02 |
- |
0.02 |
0.02 |
- |
- |
0.213966543 |
1.1390848 |
- |
0.243726036 |
- |
BRCA1_00673 |
11 |
c.994C>T |
1113C>T |
p.R332G |
0.009608014 |
2 - Likely not pathogenic or of little clinical significance |
Parsons et al 2019 |
- |
0.02 |
- |
0.02 |
0.02 |
- |
- |
0.417317436 |
1.1390848 |
- |
0.475359948 |
- |
BRCA1_00675 |
11 |
c.995G>A |
1114G>A |
p.R332Q |
- |
- |
Parsons et al 2019 |
- |
0.02 |
- |
0.02 |
0.02 |
- |
0.21 |
2.978610703 |
1.102597599 |
- |
0.689683892 |
- |
BRCA1_00714 |
11 |
c.997A>G |
1116A>G |
p.T333A |
1.30882E-05 |
1 - Not pathogenic or of no clinical significance |
Parsons et al 2019 |
- |
0.02 |
- |
0.02 |
0.02 |
0.1042 |
0.08 |
0.074470536 |
1.033092037 |
- |
0.000641329 |
- |
BRCA1_00677 |
11 |
c.1001C>T |
1120C>T |
p.P334L |
0.00000 |
1 - Not pathogenic or of no clinical significance |
Easton et al. 2007 |
Tavtigian et al. 2008 |
0.02 |
0.01 |
0.00 |
0.02 |
0.107 |
- |
8.91 |
0.00001 |
- |
9.53370E-6 |
- |
BRCA1_00060 |
11 |
c.1001C>A (Reported 2 times) |
1120C>A |
p.P334H |
0.0266 |
2 - Likely not pathogenic or of little clinical significance |
Spearman et al. 2008 |
Tavtigian et al. 2008 |
0.02 |
0.01 |
0.00 |
0.02 |
- |
0.139 |
9.65 |
- |
- |
1.34135 |
- |
BRCA1_00102 |
11 |
c.1015A>G |
1134A>G |
p.K339E |
0.396782842 |
3 - Uncertain |
Parsons et al 2019 |
- |
0.02 |
- |
0.02 |
0.64 |
- |
0.37 |
- |
- |
- |
0.37 |
- |
BRCA1_00198 |
11 |
c.1030G>A |
1149G>A |
p.A344T |
- |
- |
Parsons et al 2019 |
- |
0.02 |
- |
0.02 |
0.02 |
- |
- |
0.914806725 |
1.176779436 |
- |
1.076525742 |
- |
BRCA1_00199 |
11 |
c.1033G>T |
1152G>T |
p.D345Y |
- |
- |
Parsons et al 2019 |
- |
0.02 |
- |
0.02 |
0.02 |
1.0367 |
- |
- |
- |
- |
1.0367 |
- |
BRCA1_00200 |
11 |
c.1036C>T |
1155C>T |
p.P346S |
0.004267425 |
2 - Likely not pathogenic or of little clinical significance |
Parsons et al 2019 |
- |
0.02 |
- |
0.02 |
0.02 |
- |
0.21 |
- |
- |
- |
0.21 |
- |
BRCA1_00201 |
11 |
c.1067A>G |
1186A>G |
p.Q356R |
0.00000 |
1 - Not pathogenic or of no clinical significance |
Tavtigian et al. 2006 |
Tavtigian et al. 2008 |
0.02 |
0.01 |
0.00 |
0.02 |
- |
- |
- |
<1e-10 |
- |
<1e-10 |
- |
BRCA1_00014 |
11 |
c.1075C>T |
1194C>T |
p.P359S |
0.001638012 |
2 - Likely not pathogenic or of little clinical significance |
Parsons et al 2019 |
- |
0.02 |
- |
0.02 |
0.02 |
- |
- |
0.075326371 |
1.067279157 |
- |
0.080394266 |
- |
BRCA1_00202 |
11 |
c.1081T>C |
1200T>C |
p.S361P |
0.005223609 |
2 - Likely not pathogenic or of little clinical significance |
Parsons et al 2019 |
- |
0.02 |
- |
0.02 |
0.02 |
- |
- |
0.225883846 |
1.1390848 |
- |
0.257300856 |
- |
BRCA1_00203 |
11 |
c.1105G>A |
1224G>A |
p.D369N |
0.00000 |
1 - Not pathogenic or of no clinical significance |
Easton et al. 2007 |
Tavtigian et al. 2008 |
0.02 |
0.01 |
0.00 |
0.02 |
1 |
- |
0.00017 |
1.66 |
- |
0.00028 |
- |
BRCA1_00061 |
11 |
c.1105_1107del |
1225del3 |
p.D369del |
0.00001 |
1 - Not pathogenic or of no clinical significance |
Easton et al. 2007 |
Easton et al. 2007 |
0.02 |
0.02 |
0.00 |
0.02 |
1 |
- |
0.05 |
6.17E-03 |
- |
3.08E-04 |
- |
BRCA1_00155 |
11 |
c.1106A>G |
1225A>G |
p.D369G |
- |
- |
Parsons et al 2019 |
- |
0.02 |
- |
0.02 |
0.02 |
- |
- |
1.590916063 |
1.033092037 |
- |
1.643562716 |
- |
BRCA1_00206 |
11 |
c.1106_1108del |
1225del3 |
p.D369del |
3.97862E-07 |
1 - Not pathogenic or of no clinical significance |
Parsons et al 2019 |
- |
- |
- |
0.02 |
0.02 |
0.0116 |
0.57 |
0.049112297 |
0.060035116 |
- |
0.0000194952 |
- |
BRCA1_00205 |
11 |
c.1159T>A |
1278T>A |
p.S387A |
6.12241E-06 |
1 - Not pathogenic or of no clinical significance |
Parsons et al 2019 |
- |
0.02 |
- |
0.02 |
0.02 |
0.0003 |
- |
- |
- |
- |
0.0003 |
- |
BRCA1_00593 |
11 |
c.1192T>C |
1311T>C |
p.S398P |
0.040132281 |
3 - Uncertain |
Parsons et al 2019 |
- |
0.02 |
- |
0.02 |
0.02 |
- |
- |
1.983076777 |
1.033092037 |
- |
2.048700828 |
- |
BRCA1_00208 |
11 |
c.1222A>G |
1341A>G |
p.K408E |
- |
- |
Parsons et al 2019 |
- |
0.02 |
- |
0.02 |
0.02 |
- |
- |
1.444945483 |
1.297514181 |
- |
1.874837255 |
- |
BRCA1_00210 |
11 |
c.1231G>A |
1350G>A |
p.D411N |
- |
- |
Parsons et al 2019 |
- |
0.02 |
- |
0.02 |
0.02 |
- |
- |
0.696664009 |
1.033092037 |
- |
0.71971804 |
- |
BRCA1_00211 |
11 |
c.1233T>G |
1352T>G |
p.D411E |
- |
- |
Parsons et al 2019 |
- |
0.02 |
- |
0.02 |
0.64 |
1.9264 |
0.0798 |
6.482954927 |
1.297514181 |
- |
1.29310704 |
- |
BRCA1_00212 |
11 |
c.1243G>A |
1362G>A |
p.V415I |
0.007968644 |
2 - Likely not pathogenic or of little clinical significance |
Parsons et al 2019 |
- |
0.02 |
- |
0.02 |
0.02 |
0.984 |
0.4 |
- |
- |
- |
0.3936 |
- |
BRCA1_00213 |
|
DNA change |
|

 | |
|
|
|
|
Key Observational Reference |
 |

 | |
|
Missense analysis Prior P |
 |

 | |
|
|
|
|
|
|
|
|
|
|
|
11 |
c.1258G>T (Reported 2 times) |
1377G>T |
p.D420Y |
0.01418 |
2 - Likely not pathogenic or of little clinical significance |
Easton et al. 2007 |
Vallee et al. 2016 |
0.02 |
0.64 |
0.00 |
0.64 |
1 |
- |
6.92E-03 |
1.17 |
- |
8.09E-03 |
- |
BRCA1_00152 |
11 |
c.1310A>C |
1429A>C |
p.H437P |
- |
- |
Parsons et al 2019 |
- |
0.02 |
- |
0.02 |
0.02 |
- |
- |
1.596618674 |
1.033092037 |
- |
1.649454039 |
- |
BRCA1_00215 |
11 |
c.1310A>T |
1429A>T |
p.H437L |
0.004739851 |
2 - Likely not pathogenic or of little clinical significance |
Parsons et al 2019 |
- |
0.02 |
- |
0.02 |
0.02 |
- |
- |
0.225883846 |
1.033092037 |
- |
0.233358803 |
- |
BRCA1_00216 |
11 |
c.1324T>C |
1443T>C |
p.C442R |
- |
- |
Parsons et al 2019 |
- |
0.02 |
- |
0.02 |
0.02 |
- |
- |
1.556153571 |
1.033092037 |
- |
1.607649863 |
- |
BRCA1_00218 |
11 |
c.1342C>T |
1461C>T |
p.H448Y |
0.005866173 |
2 - Likely not pathogenic or of little clinical significance |
Parsons et al 2019 |
- |
0.02 |
- |
0.02 |
0.02 |
- |
- |
0.279876907 |
1.033092037 |
- |
0.289138604 |
- |
BRCA1_00220 |
11 |
c.1361G>A |
1480G>A |
p.S454N |
0.010070867 |
2 - Likely not pathogenic or of little clinical significance |
Parsons et al 2019 |
- |
0.02 |
- |
0.02 |
0.02 |
- |
- |
0.482525023 |
1.033092037 |
- |
0.498492759 |
- |
BRCA1_00226 |
11 |
c.1367T>C |
1486T>C |
p.I456T |
- |
- |
Parsons et al 2019 |
- |
0.02 |
- |
0.02 |
0.02 |
- |
- |
0.700020165 |
1.1390848 |
- |
0.797382329 |
- |
BRCA1_00227 |
11 |
c.1383T>A |
1502T>A |
p.F461L |
0.000244369 |
1 - Not pathogenic or of no clinical significance |
Parsons et al 2019 |
- |
0.02 |
- |
0.02 |
0.02 |
0.0048 |
- |
1.986709037 |
1.255952165 |
- |
0.011977016 |
- |
BRCA1_00228 |
11 |
c.1396C>G |
1515C>G |
p.R466G |
- |
- |
Parsons et al 2019 |
- |
0.02 |
- |
0.02 |
0.02 |
- |
- |
0.914806725 |
1.067279157 |
- |
0.97635415 |
- |
BRCA1_00229 |
11 |
c.1396C>T |
1515C>T |
p.R466W |
0.001844254 |
2 - Likely not pathogenic or of little clinical significance |
Parsons et al 2019 |
- |
0.02 |
- |
0.02 |
0.02 |
- |
- |
0.074470536 |
1.215721465 |
- |
0.09053543 |
- |
BRCA1_00230 |
11 |
c.1418A>G |
1537A>G |
p.N473S |
0.00000 |
1 - Not pathogenic or of no clinical significance |
Easton et al. 2007 |
Tavtigian et al. 2008 |
0.02 |
0.01 |
0.00 |
0.02 |
1 |
- |
0.0513 |
0.00324 |
- |
0.00017 |
- |
BRCA1_00062 |
11 |
c.1418A>T |
1537A>T |
p.N473I |
0.000525246 |
1 - Not pathogenic or of no clinical significance |
Parsons et al 2019 |
- |
0.02 |
- |
0.02 |
0.02 |
- |
0.34 |
0.066489318 |
1.1390848 |
- |
0.02575057 |
- |
BRCA1_00232 |
11 |
c.1423A>T |
1542A>T |
p.S475C |
0.006581861 |
2 - Likely not pathogenic or of little clinical significance |
Parsons et al 2019 |
- |
0.02 |
- |
0.02 |
0.02 |
0.1944 |
1.67 |
- |
- |
- |
0.324648 |
- |
BRCA1_00233 |
11 |
c.1448T>C |
1567T>C |
p.I483T |
- |
- |
Parsons et al 2019 |
- |
0.02 |
- |
0.02 |
0.02 |
- |
- |
1.455675089 |
1.067279157 |
- |
1.553611683 |
- |
BRCA1_00234 |
11 |
c.1456T>C |
1575T>C |
p.F486L |
0.00000 |
1 - Not pathogenic or of no clinical significance |
Spurdle et al. 2008 |
Tavtigian et al. 2008 |
0.02 |
0.01 |
0.00 |
0.02 |
0.0007 |
0.143 |
- |
9.1225E-07 |
- |
9.13162E-11 |
- |
BRCA1_00032 |
11 |
c.1465G>A |
1584G>A |
p.E489K |
- |
- |
Parsons et al 2019 |
- |
0.02 |
- |
0.02 |
0.02 |
- |
- |
1.318751854 |
1.033092037 |
- |
1.362392039 |
- |
BRCA1_00235 |
11 |
c.1469C>T |
1588C>T |
p.P490L |
- |
- |
Parsons et al 2019 |
- |
0.02 |
- |
0.02 |
0.02 |
- |
- |
0.779710926 |
1.033092037 |
- |
0.805513149 |
- |
BRCA1_00236 |
11 |
c.1472A>G |
1591A>G |
p.Q491R |
- |
- |
Parsons et al 2019 |
- |
0.02 |
- |
0.02 |
0.02 |
- |
- |
0.671611784 |
1.033092037 |
- |
0.693836786 |
- |
BRCA1_00237 |
11 |
c.1486C>T |
1605C>T |
p.R496C |
0.00089 |
1 - Not pathogenic or of no clinical significance |
Chenevix-Trench et al. 2006 |
Tavtigian et al. 2008 |
0.02 |
0.01 |
0.00 |
0.02 |
1.95 |
- |
- |
0.0224 |
- |
0.04368 |
- |
BRCA1_00026 |
11 |
c.1487G>A |
1606G>A |
p.R496H |
0.00000 |
1 - Not pathogenic or of no clinical significance |
Tavtigian et al. 2006 |
Tavtigian et al. 2008 |
0.02 |
0.01 |
0.00 |
0.02 |
- |
- |
- |
9.20E-05 |
- |
9.20000E-5 |
- |
BRCA1_00018 |
11 |
c.1508A>G |
1627A>G |
p.K503R |
0.010082793 |
2 - Likely not pathogenic or of little clinical significance |
Parsons et al 2019 |
- |
0.02 |
- |
0.02 |
0.02 |
- |
- |
0.452648414 |
1.102597599 |
- |
0.499089055 |
- |
BRCA1_00239 |
11 |
c.1511G>A |
1630G>A |
p.R504H |
0.00000 |
1 - Not pathogenic or of no clinical significance |
Easton et al. 2007 |
Tavtigian et al. 2008 |
0.02 |
0.01 |
0.00 |
0.02 |
0.0218 |
- |
0.00065 |
3.72 |
- |
5.27124E-5 |
- |
BRCA1_00063 |
11 |
c.1514A>T |
1633A>T |
p.K505I |
0.001373241 |
2 - Likely not pathogenic or of little clinical significance |
Parsons et al 2019 |
- |
0.02 |
- |
0.02 |
0.02 |
- |
- |
0.065222985 |
1.033092037 |
- |
0.067381347 |
- |
BRCA1_00240 |
11 |
c.1534C>G |
1653C>G |
p.L512V |
0.008044958 |
2 - Likely not pathogenic or of little clinical significance |
Parsons et al 2019 |
- |
0.02 |
- |
0.02 |
0.02 |
0.3974 |
- |
- |
- |
- |
0.3974 |
- |
BRCA1_00596 |
11 |
c.1534C>T |
1653C>T |
p.L512F |
0.000142962 |
1 - Not pathogenic or of no clinical significance |
Parsons et al 2019 |
- |
0.02 |
- |
0.02 |
0.02 |
0.999899983 |
0.12 |
0.033572095 |
1.739254919 |
- |
0.007006151 |
- |
BRCA1_00242 |