Download ppt - Supplementary Table 1: BRCA1 sequence variants used to determine the sensitivity of high resolution melting. BRCA1 exon DNA level systematic nomenclature

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

2.1c.53T>C (172T>C) p.Met18Thr Mutation

c.34C>T (153C>T) p.Gln12X Mutation

2.2c.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

6c.232delA (351delA) p.Arg78fs Mutation


7

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

8

c.493del2 (612delCT) p.Thr164fs Mutation

c.536A>G (655A>G) p.Tyr179Cys Unclassified Variant


9 c.591C>T (710C>T) p.Cys197Cys Polymorphism

10 c.670+8C>T (IVS10+8C>T) non-coding Unclassified Variant

11. 1

11. 2c.783T>G (902T>G) p.Tyr261X Mutation

c.736T>G (855T>G) p.Leu246Lys Unclassified Variant

11. 3c.1010delA (1129delA) p.Glu337fs Mutation

c.1016dupA (1135insA) p.Lys339fs Mutation

11. 4

c.1072delC (1191delC) p.Leu358fs Mutation


c.1116G>A (1235G>A) p.Trp372X Mutation

c.1121delC (1240delC) p.Thr374fs Mutation

11. 5

c.1287dupA (1406insA) p.Asp430fs Mutation

c.1292dupT (1411insT) p.Leu431fs Mutation

c.1319delT (1438delT) p.Leu440fs Mutation

11. 6

c.1504_1508del5 (1623del5) p.Leu502fs Mutation

c.1529C>G (1648C>G) p.Ser510X Mutation


11. 7c.1881_1884del4 (2000del4) p.Val627fs Mutation

c.1739_1740insAlu (1858insAlu) p.Phe580fs Mutation

11. 8c.1961delA (2080delA) p.Lys654fs Mutation

c.2019delA (2138delA) p.Glu673fs Mutation

11. 9

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

11. 10


c.2380dupG (2478insG) p.Glu787fs Mutation

c.2405_2406delTG (2524delTG) p.Val802fs Mutation

11. 11c.2507_2508delAA (2626delAA) p.Asn838fs Mutation

c.2603C>G (2722C>G) p.Ser868X Mutation

11. 12

c.2646_2648delTGC (2765delTGC) p.Cys882X Mutation

c.2685_2686delAA (2804delAA) p.Gln895fs Mutation

c.2689insA (2809insA) p.Pro897fs Mutation


c.2726delA (2845delA) p.Asn909fs Mutation

c.2727_2730del4 (2846del4) p.Asn909fs Mutation

c.2728delC (2847delC) p.Gln910fs Mutation

11. 13 c.2764_2767del4 (2883delACAG) p.Thr922fs Mutation

11. 14c.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

11. 17

11. 18

c.3485delA (3604delA) p.Asp1162fs Mutation


c.3549AG>T (3668AG>T) p.Lys1183fs Mutation

c.3607C>T (3726C>T) p.Arg1203X Mutation

11. 19




c.3756_3759del4 (3875del4) p.Leu1252fs Mutation

c.3770_3771delAG (3889delAG) p.Glu1257fs Mutation

11. 20


c.3820dupG (3939insG) p.Val1274fs Mutation

c.3891_3893delTTC (4010delTTC) p.Ser1297del Mutation

11. 21 c.4026A>C (4145A>C) p.Ser1342Ser Unclassified Variant

12 c.4165_4166delAG (4284delAG) p.Ser1389fs Mutation

13c.4327C>T (4446C>T) p.Arg1443X Mutation

c.4337A>G (4456A>G) p.Glu1446Gly Unclassified Variant

14

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

15. 1c.4535G>T (4654G>T) p.Ser1512Ile Polymorphism

c.4575_4585del11 (4694del11) p.Gln1525fs Mutation

15.2

16.1 c.4812A>G (4931A>G) p.Gln1604Gln Polymorphism

16.2c.4919C>T (5083C>T) p.Ser1655Phe Unclassified Variant

c.4956G>A (5075G>A) p.Met1652Ile Polymorphism

17

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

18c.5075-1G>A (IVS18-1G>A) non-coding Mutation


19c.5158A>G (5277A>G) p.Thr1720Ala Unclassified Variant

c.5191+2delT (IVS19+2delT) non-coding Mutation

20c.5266dupC (5382insC) p.Gln1756fs Mutation

c.5277+1G>A (IVS20+1G>A) non coding Mutation

21c.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

24c.5503C>T (5622C>T) p.Arg1835X Mutation

c.5503_5564del62 (5622del62) p.Arg1835fs Mutation

Supplementary Table 2: BRCA2 sequence variants used to determine the

sensitivity of high resolution melting

BRCA2exon

DNA level systematic nomenclature (BIC) Protein level Suggested classification

2 c.8T>C (236T>C) p.Ile3Thr Unclassified Variant

3

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

4

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

10. 1c.794-5insT (IVS9-5insT) non-coding Unclassified Variant

c.865A>C (1093A>C) p.Asn289His Polymorphism

10. 2 c.994delA (1222delA) p.Ile332fs Mutation

10. 3c.1202C>G (1430C>G) p.Ser401X Mutation

c.1213G>A (1441G>A) p.Gly405Arg Unclassified Variant

10. 4


c.1343G>A (1571G>A) p.Arg448His Unclassified Variant

c.1365A>G (1593A>G) p.Ser455Ser Polymorphism

10. 5

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

10. 6c.1705delC (1933delC) p.Gln569fs Mutation

c.1670T>G (1898T>G) p.Leu557X Mutation

10. 7c.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

11. 4


c.2473A>G (2701A>G) p.Asn825Asp Unclassified Variant

c.2492T>C (2720T>C) p.Val831Ala Unclassified Variant

11. 5c.2806_2809del4 (3034del4) p.Lys936fs Mutation

c.2810_2809delAA (3038delAA) p.Gln937fs Mutation

11. 6

c.2957dupA (3185insA) p.Asn986fs Mutation

c.2883G>A (3111G>A) p.Gln961Gln Unclassified Variant

c.2971A>G (3199A>G) p.Asn991Asp Polymorphism

11. 7c.3076A>T (3304A>T) p.Lys1026X Mutation


11. 8

c.3269delT (3497delT) p.Met1090fs Mutation

c.3268A>G (3496A>G) p.Met1090Val Unclassified Variant

c.3396A>G (3624A>G) p.Lys1132Lys Polymorphism

11. 9c.3453dupT (3681insT) p.Leu1151fs Mutation

c.3516G>A (3744G>A) p.Ser1127Ser Polymorphism

11. 10

11. 11c.3866_3867delAA (4094delAA) p.Lys1289fs Mutation

c.3839A>T (4067A>T) p.Asp1280Val Unclassified Variant

11. 12c.3922G>T (4150G>T) p.Phe1308X Mutation

c.3847_3848delGT (4075delGT) p.Val1283fs Mutation

11. 13

11. 14 c.4171delG (4399delG) p.Glu1391Lys Mutation

11. 15

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

11. 16c.4535delG (4763delG) p.Arg1512fs Mutation

c.4584C>T (4812C>T) p.Ser1528Ser Unclassified Variant

11. 17 c.4699C>T (4927C>T) p.Leu1567Leu Unclassified Variant

11. 18c.4935delA (5163delA) p.Lys1645fs Mutation


11. 19

c.5180delA (5408delA) p.Glu1727fs Mutation


c.5199T>C (5427T>C) p.Ser1733Ser Polymorphism

11. 20

c.5350_5351delAA (5578delAA) p.Asn1784fs Mutation

c.6351dupA (5579insA) p.Asn1784fs Mutation

c.5213_5216del4 (5441delCTTA) p.Thr1738fs Mutation

11. 21

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

11. 22

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.5744C>T (5972C>T) p.Thr1915Met Polymorphism

11. 23 c.5964delT (6174delT) p.Ser1982fs Mutation

11. 24

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

11. 25 c.6461A>C (6689A>C) p.Tyr2154Ser Unclassified Variant

11. 26

c.6644_6647del4 (6872del4) p.Tyr2215fs Mutation

c.6603_6604delTG (6831delTG) p.Ser2201fs Mutation

c.6591_6592delTG (6819delTG) p.Thr2197fs Mutation

11. 27 c.6824A>G (7052A>G) p.Gln2275Gly Unclassified Variant

12

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

15c.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

18.1

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

21

22. 1c.8850G>T (9078G>T) p.Lys2950Asn Polymorphism

c.8851G>A (9079G>A) p.Ala2951Thr Polymorphism

22. 2 c.8904delC (9132delC) p.Val2969fs Mutation

23. 1c.8963G>A (9191G>A) p.Ser2988Asn Unclassified variant

c.9038C>T (9266C>T) p.Thr3013Ile Unclassified variant

23. 2 c.9099_9100delTC (9327delTC) p.Thr3033fs Mutation

24

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

25. 1 c.9292T>C (9520T>C) p.Tyr3098His Unclassified Variant

25. 2

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

26

27. 1

27. 2

27. 3

27. 4c.10110G>A (10338G>A) p.Arg3370Arg Polymorphism

c.10045A>G (10273A>G) p.Thr3349Ala Unclassified Variant

27. 5 c.10234A>G (10462A>G) p.Ile3412Val Polymorphism