Supplementary Table 1: BRCA1 sequence variants used to determine the sensitivity
of high resolution melting.
BRCA1
exon
DNA level systematic
nomenclature (BIC)
Protein level
Suggested classification
c.53T>C (172T>C)
p.Met18Thr
Mutation
c.34C>T (153C>T)
p.Gln12X
Mutation
c.68_69delAG (185delAG)
p.Glu23fs
Mutation
c.66dupA (185insA)
p.Glu23fs
Mutation
3
c.134+3A>C (IVS3+3A>C)
non-coding
Mutation
5
c.212+3A>G (IVS5+3A>G)
non-coding
Mutation
c.232delA (351delA)
p.Arg78fs
Mutation
c.280C>T (399C>T)
p.Gln94X
Mutation
c.302-3C>G (IVS6-3C>G)
non-coding
Mutation
c.427G>T (546G>T)
p.Glu143X
Mutation
c.302-1G>A (IVS6-1G>A)
non-coding
Mutation
c.314A>G (433A>G)
p.Tyr105Cys
Unclassified Variant
c.493del2 (612delCT)
p.Thr164fs
Mutation
c.536A>G (655A>G)
p.Tyr179Cys
Unclassified Variant
c.514C>T (633C>T)
p.Gln172X
Mutation
9
c.591C>T (710C>T)
p.Cys197Cys
Polymorphism
10
c.670+8C>T (IVS10+8C>T)
non-coding
Unclassified Variant
c.783T>G (902T>G)
p.Tyr261X
Mutation
c.736T>G (855T>G)
p.Leu246Lys
Unclassified Variant
c.1010delA (1129delA)
p.Glu337fs
Mutation
c.1016dupA (1135insA)
p.Lys339fs
Mutation
c.1072delC (1191delC)
p.Leu358fs
Mutation
c.1066C>T (1185C>T)
p.Gln356X
Mutation
c.1116G>A (1235G>A)
p.Trp372X
Mutation
c.1121delC (1240delC)
p.Thr374fs
Mutation
c.1287dupA (1406insA)
p.Asp430fs
Mutation
c.1292dupT (1411insT)
p.Leu431fs
Mutation
c.1319delT (1438delT)
p.Leu440fs
Mutation
c.1504_1508del5 (1623del5)
p.Leu502fs
Mutation
c.1529C>G (1648C>G)
p.Ser510X
Mutation
c.1697C>T (1806C>T)
p.Gln563X
Mutation
c.1881_1884del4 (2000del4)
p.Val627fs
Mutation
c.1739_1740insAlu (1858insAlu)
p.Phe580fs
Mutation
2.1
2.2
6
7
8
11. 1
11. 2
11. 3
11. 4
11. 5
11. 6
11. 7
c.1961delA (2080delA)
p.Lys654fs
Mutation
c.2019delA (2138delA)
p.Glu673fs
Mutation
c.2193_2197del5 (2312del5)
p.Lys731fs
Mutation
c.2197_2201del5 (2316del5)
p.Glu733fs
Mutation
c.2210delC (2329delC)
p.Thr737fs
Mutation
c.2212_2215del4 (2331del4)
p.Val738fs
Mutation
c.2338C>T (2457C>T)
p.Gln780X
Mutation
c.2380dupG (2478insG)
p.Glu787fs
Mutation
c.2405_2406delTG (2524delTG)
p.Val802fs
Mutation
c.2507_2508delAA (2626delAA)
p.Asn838fs
Mutation
c.2603C>G (2722C>G)
p.Ser868X
Mutation
c.2646_2648delTGC (2765delTGC)
p.Cys882X
Mutation
c.2685_2686delAA (2804delAA)
p.Gln895fs
Mutation
c.2689insA (2809insA)
p.Pro897fs
Mutation
c.2722G>T (2841G>T)
p.Glu908X
Mutation
c.2726delA (2845delA)
p.Asn909fs
Mutation
c.2727_2730del4 (2846del4)
p.Asn909fs
Mutation
c.2728delC (2847delC)
p.Gln910fs
Mutation
c.2764_2767del4 (2883delACAG)
p.Thr922fs
Mutation
c.2934T>G (3053T>G)
p.Tyr978X
Mutation
c.2989_2990dupA (3109insAA)
p.Asn997fs
Mutation
11. 15
c.3012delG (3131delG)
p.Glu1004fs
Mutation
11. 16
c.3179A>C (3298A>C)
p.Glu1060Ala
Unclassified Variant
c.3329dupA (3448insA)
p.Lys1110fs
Mutation
c.3485delA (3604delA)
p.Asp1162fs
Mutation
c.3481_3491del11 (3600del11)
p.Glu1161fs
Mutation
c.3549AG>T (3668AG>T)
p.Lys1183fs
Mutation
c.3607C>T (3726C>T)
p.Arg1203X
Mutation
c.3640G>T (3759G>T)
p.Glu1214X
Mutation
c.3748G>T (3867G>T)
p.Glu1250X
Mutation
c.3661G>T (3780G>T)
p.Glu1221X
Mutation
c.3756_3759del4 (3875del4)
p.Leu1252fs
Mutation
c.3770_3771delAG (3889delAG)
p.Glu1257fs
Mutation
c.3841C>T (3960C>T)
p.Gln1281X
Mutation
c.3820dupG (3939insG)
p.Val1274fs
Mutation
c.3891_3893delTTC (4010delTTC)
p.Ser1297del
Mutation
11. 8
11. 9
11. 10
11. 11
11. 12
11. 13
11. 14
11. 17
11. 18
11. 19
11. 20
11. 21
c.4026A>C (4145A>C)
p.Ser1342Ser
Unclassified Variant
c.4165_4166delAG (4284delAG)
p.Ser1389fs
Mutation
c.4327C>T (4446C>T)
p.Arg1443X
Mutation
c.4337A>G (4456A>G)
p.Glu1446Gly
Unclassified Variant
c.4416delTTinsG (4535delTTinsG)
p.Leu1472fs
Mutation
c.4435delG (4554delG)
p.Val1479fs
Mutation
c.4455A>T (4574A>T)
p.Ser1486Cys
Unclassified Variant
c.4358-10C>T (IVS13-10C>T)
non-coding
Unclassified Variant
c.4535G>T (4654G>T)
p.Ser1512Ile
Polymorphism
c.4575_4585del11 (4694del11)
p.Gln1525fs
Mutation
c.4812A>G (4931A>G)
p.Gln1604Gln
Polymorphism
c.4919C>T (5083C>T)
p.Ser1655Phe
Unclassified Variant
c.4956G>A (5075G>A)
p.Met1652Ile
Polymorphism
c.5030_5033del4 (5149del4)
p.Thr1677fs
Mutation
c.4993G>A (5112G>A)
p.Val1655Met
Unclassified Variant
c.5074+5A>T (IVS17+5A>T)
non-coding
Unclassified Variant
c.5075-1G>A (IVS18-1G>A)
non-coding
Mutation
c.5137delG (5256delG)
p.Val1713fs
Mutation
c.5158A>G (5277A>G)
p.Thr1720Ala
Unclassified Variant
c.5191+2delT (IVS19+2delT)
non-coding
Mutation
c.5266dupC (5382insC)
p.Gln1756fs
Mutation
c.5277+1G>A (IVS20+1G>A)
non coding
Mutation
c.5329dupC (5448insC)
p.Thr1777fs
Mutation
c.5332G>A (5451G>A)
p.Asp1778Asn
Unclassified Variant
22
c.5406+5G>A (IVS22+5G>A)
non-coding
Mutation
23
c.5467+21insT (IVS23+21insT)
non-coding
Unclassified Variant
c.5503C>T (5622C>T)
p.Arg1835X
Mutation
c.5503_5564del62 (5622del62)
p.Arg1835fs
Mutation
12
13
14
15. 1
15.2
16.1
16.2
17
18
19
20
21
24
Supplementary Table 2: BRCA2 sequence variants used to determine the
sensitivity of high resolution melting
BRCA2
exon
DNA level systematic
nomenclature (BIC)
Protein level
Suggested classification
c.8T>C (236T>C)
p.Ile3Thr
Unclassified Variant
c.179A>G (407A>G)
p.Asn60Ser
Unclassified Variant
c.125A>G (353A>G)
p.Tyr42Cys
Polymorphism
c.273C>A (501C>A)
p.Tyr91X
Mutation
5
c.462_463delAA (690delAA)
p.Gln154fs
Mutation
6
c.516+1G>A (IVS6+1G>A)
non-coding
Mutation
7
c.575T>C (803T>C)
p.Met192Thr
Unclassified Variant
8
c.634_635delAG (862delAG)
p.Arg212fs
Mutation
9
c.755_758del4 (983_986del4)
p.Asp252fs
Mutation
c.794-5insT (IVS9-5insT)
non-coding
Unclassified Variant
c.865A>C (1093A>C)
p.Asn289His
Polymorphism
c.994delA (1222delA)
p.Ile332fs
Mutation
c.1202C>G (1430C>G)
p.Ser401X
Mutation
c.1213G>A (1441G>A)
p.Gly405Arg
Unclassified Variant
c.1310_1313del4 (1538del4)
p.Lys437fs
Mutation
c.1343G>A (1571G>A)
p.Arg448His
Unclassified Variant
c.1365A>G (1593A>G)
p.Ser455Ser
Polymorphism
c.1385A>G (1613A>G)
p.Gln462Gly
Unclassified Variant
c.1389_1390delAG (1617delAG)
p.Thr463fs
Mutation
c.1395A>C (1623A>C)
p.Val465Val
Unclassified Variant
c.1705delC (1933delC)
p.Gln569fs
Mutation
c.1670T>G (1898T>G)
p.Leu557X
Mutation
c.1889C>T (2117C>T)
p.Thr630Ile
Unclassified Variant
c.1909+22insT (2137+22insT)
non-coding
Polymorphism
11. 1
c.1938C>T (2166C>T)
p.Ser646Ser
Polymorphism
11. 2
c.2229T>C (2457T>C)
p.His743His
Polymorphism
11. 3
c.2416G>C (2644G>C)
p.Asp806His
Unclassified Variant
c.2584_2590del7 (2812del7)
p.Lys862fs
Mutation
c.2473A>G (2701A>G)
p.Asn825Asp
Unclassified Variant
c.2492T>C (2720T>C)
p.Val831Ala
Unclassified Variant
2
3
4
10. 1
10. 2
10. 3
10. 4
10. 5
10. 6
10. 7
11. 4
c.2806_2809del4 (3034del4)
p.Lys936fs
Mutation
c.2810_2809delAA (3038delAA)
p.Gln937fs
Mutation
c.2957dupA (3185insA)
p.Asn986fs
Mutation
c.2883G>A (3111G>A)
p.Gln961Gln
Unclassified Variant
c.2971A>G (3199A>G)
p.Asn991Asp
Polymorphism
c.3076A>T (3304A>T)
p.Lys1026X
Mutation
c.3109C>T (3337C>T)
p.Gln1037X
Mutation
c.3269delT (3497delT)
p.Met1090fs
Mutation
c.3268A>G (3496A>G)
p.Met1090Val
Unclassified Variant
c.3396A>G (3624A>G)
p.Lys1132Lys
Polymorphism
c.3453dupT (3681insT)
p.Leu1151fs
Mutation
c.3516G>A (3744G>A)
p.Ser1127Ser
Polymorphism
c.3866_3867delAA (4094delAA)
p.Lys1289fs
Mutation
c.3839A>T (4067A>T)
p.Asp1280Val
Unclassified Variant
c.3922G>T (4150G>T)
p.Phe1308X
Mutation
c.3847_3848delGT (4075delGT)
p.Val1283fs
Mutation
c.4171delG (4399delG)
p.Glu1391Lys
Mutation
c.5314delC (4542delC)
p.Val1438fs
Mutation
c.4456_4459del4 (4684del4)
p.Val1486fs
Mutation
c.4480dupA (4708insA)
p.Ser1494fs
Mutation
c.4449delA (4677delA)
p.Thr1483fs
Mutation
c.4433T>C (4661T>C)
p.Leu1478Pro
Unclassified Variant
c.4535delG (4763delG)
p.Arg1512fs
Mutation
c.4584C>T (4812C>T)
p.Ser1528Ser
Unclassified Variant
c.4699C>T (4927C>T)
p.Leu1567Leu
Unclassified Variant
c.4935delA (5163delA)
p.Lys1645fs
Mutation
c.4936_4939del4 (5164del4)
p.Glu1646fs
Mutation
c.5180delA (5408delA)
p.Glu1727fs
Mutation
c.5131delG (5359delG)
p.Val1711fs
Mutation
c.5199T>C (5427T>C)
p.Ser1733Ser
Polymorphism
c.5350_5351delAA (5578delAA)
p.Asn1784fs
Mutation
c.6351dupA (5579insA)
p.Asn1784fs
Mutation
c.5213_5216del4 (5441delCTTA)
p.Thr1738fs
Mutation
11. 5
11. 6
11. 7
11. 8
11. 9
11. 10
11. 11
11. 12
11. 13
11. 14
11. 15
11. 16
11. 17
11. 18
11. 19
11. 20
c.5577_5580del4 (5805del4)
p.Ile1859fs
Mutation
c.5595_5596delAT (5823delAT)
p.Ile1865fs
Mutation
c.5529A>C (5757A>C)
p.Ala1843Ala
Unclassified Variant
c.5552T>G (5780T>G)
p.Ile1851Ser
Unclassified Variant
c.5645C>A (5873C>A)
p.Ser1882X
Mutation
c.5722_5723delCT (5950delCT)
p.Leu1908fs
Mutation
c.5771_5774del4 (5999del4)
p.Ile1924fs
Mutation
c.5681dupA (5909insA)
p.Tyr1894fs
Mutation
c.5682C>G (5910C>G)
p.Tyr1894X
Mutation
c.5857G>T (6085G>T)
p.Glu1953X
Mutation
c.5744C>T (5972C>T)
p.Thr1915Met
Polymorphism
c.5964delT (6174delT)
p.Ser1982fs
Mutation
c.6270_6271delTA (6498delTA)
p.His2090fs
Mutation
c.6280_6281delTT (6503delTT)
p.Leu292fs
Mutation
c.6280_6286del7 (6508del7)
p.Tyr2094fs
Mutation
c.6100C>T (6328C>T)
p.Arg2034Cys
Polymorphism
c.6461A>C (6689A>C)
p.Tyr2154Ser
Unclassified Variant
c.6644_6647del4 (6872del4)
p.Tyr2215fs
Mutation
c.6603_6604delTG (6831delTG)
p.Ser2201fs
Mutation
c.6591_6592delTG (6819delTG)
p.Thr2197fs
Mutation
c.6824A>G (7052A>G)
p.Gln2275Gly
Unclassified Variant
13
c.7007G>A (7235G>A)
p.Arg2336His
Mutation
14. 1
c.7057G>C (7285G>C)
p.Gly2353Arg
Unclassified Variant
14. 2
c.7242A>G (7470A>G)
p.Ser2414Ser
Polymorphism
14. 3
c.7413A>G (7641A>G)
p.Thr2471Thr
Polymorphism
c.7463G>A (7691G>A)
p.Arg2488Lys
Unclassified Variant
c.7602G>C (7830G>C)
p.Ala2434Ala
Unclassified Variant
16
c.7632C>T (7860C>T)
p.Gly2544Gly
Polymorphism
17
c.7944C>T (8172C>T)
p.Ser2648Ser
Unclassified Variant
c.8067T>A (8295T>A)
p.Cys2689X
Mutation
c.8167C>G (8395C>G)
p.Asp2723His
Mutation
c.8182G>A (8410G>A)
p.Val2728Ile
Polymorphism
18.2
c.8243G>A (8471G>A)
p.Gly2748Asp
Unclassified Variant
19
c.8603T>C (8375T>C)
p.Leu2793Pro
Polymorphism
20
c.8567A>C (8795A>C)
p.Glu2856Ala
Polymorphism
11. 21
11. 22
11. 23
11. 24
11. 25
11. 26
11. 27
12
15
18.1
21
c.8850G>T (9078G>T)
p.Lys2950Asn
Polymorphism
c.8851G>A (9079G>A)
p.Ala2951Thr
Polymorphism
c.8904delC (9132delC)
p.Val2969fs
Mutation
c.8963G>A (9191G>A)
p.Ser2988Asn
Unclassified variant
c.9038C>T (9266C>T)
p.Thr3013Ile
Unclassified variant
c.9099_9100delTC (9327delTC)
p.Thr3033fs
Mutation
c.9256+1G>A (IVS24+1G>A)
non-coding
Mutation
c.9117G>A (9345G>A)
p.Pro3039Pro
Polymorphism
c.9256-12T>G (IVS24-12T>G)
non-coding
Unclassified Variant
c.9292T>C (9520T>C)
p.Tyr3098His
Unclassified Variant
c.9458delG (9686delG)
p.Gly3153fs
Mutation
c.9501+9A>C (IVS25+9A>C)
non-coding
Polymorphism
c.9257-16T>C (IVS24-16T>C)
non-coding
Polymorphism
c.9501+3A>T (IVS25+3A>T)
non-coding
Unclassified Variant
c.10110G>A (10338G>A)
p.Arg3370Arg
Polymorphism
c.10045A>G (10273A>G)
p.Thr3349Ala
Unclassified Variant
c.10234A>G (10462A>G)
p.Ile3412Val
Polymorphism
22. 1
22. 2
23. 1
23. 2
24
25. 1
25. 2
26
27. 1
27. 2
27. 3
27. 4
27. 5