Table 3.
BRCA2 variants
| No of families | HGVS | Type of mutation | No.of ind. | No. of fam. | Average no of carrier/ fam | Percentage of carriers/families | Previous reports | |
|---|---|---|---|---|---|---|---|---|
| >30 | c.5217_5223del | p.Tyr1739* | stop | 230 | 61 | 3,8 | 21% | NF |
| 230/1092 19% 61/312 |
||||||||
| 10–30 | c.4821_4823delTGAinsC | p.Glu1608Aspfs*6 | fs | 126 | 25 | 3,9 | 34% | NF |
| c.2808_2811del | p.Ala938Profs*21 | fs | 89 | 26 | 368/1092 | Norwegian founder | ||
| c.8331 + 2 T > C | p.? | splice variant | 71 | 29 | Danish founder | |||
| c.3847_3848del | p.Val1283Lysfs*2 | fs | 82 | 14 |
30%
94/312 |
Norwegian, Iranian founder | ||
| 3–9 | dup exon 20/ c.(8487 + 1_8488–1)_(8632 + 1_8633–1)dup | p.? | rearr | 34 | 9 | 3,2 | 23% | NF |
| c.9118-2A > G | p.? | splice variant | 44 | 8 | 257/1092 | Finnish founder, recurrent Polish | ||
| c.5723_5722del | p.Leu1908Argfs*2 | fs | 23 | 8 | NF | |||
| c.2047_2050del | p.Ser683Argfs*46 | fs | 28 | 6 |
26%
80/312 |
NPR | ||
| c.8229_8243del | p.Arg2744_Gly2748del | in frame del | 18 | 5 | NF | |||
| c.5946del | p.Ser1982Argfs*22 | fs | 11 | 5 | Ashkenazi, Hungarian | |||
| c.771_775del | p.Asn257Lysfs*17 | fs | 6 | 5 | Finnish, Icelandic | |||
| c.1905_1909del | Asp635Glufs*15 | fs | 22 | 4 | NF | |||
| c.5576_5573del | p.Ile1859Lysfs*5 | fs | 11 | 4 | NF | |||
| c.6059_6062del | p.Glu2020Valfs*19 | fs | 9 | 4 | NF | |||
| c.9117G > A | p.Val2985Glyfs*4 | splice variant | 5 | 4 | NF | |||
| c.171C > G | p.Tyr57Ter* | stop | 15 | 3 | NF | |||
| c.8177A > G | p.Tyr2726Cys | missense | 9 | 3 | NF | |||
| c.2830A > T | p.Lys944Ter* | stop | 8 | 3 | NF | |||
| c.3847_3848del | p.Val1283Lysfs*2 | fs | 8 | 3 | NF | |||
| c.7069_7070del | p.Leu2357Valfs*2 | fs | 3 | 3 | NF | |||
| c.7480C > T | p.Arg2494* | stop | 3 | 3 | Finnish founder | |||
| 1–2 | del exon 3 | p.? | rearr | 8 | 2 | 3,1 | 22% | NF |
| c.3G > A | p.Met1? | start loss | 6 | 2 | 237/1092 | NF | ||
| c.5157_5161del | p.Asn1719Lysfs*6 | fs | 2 | 2 | 25% | NF | ||
| c.6373dup | p.Thr2125Asnfs*4 | fs | 5 | 2 | 77/312 | NF | ||
| c.6486_6489del | p.Lys2162Asnfs*5 | fs | 2 | 2 | Danish founder | |||
| c.7558C > T | p.Arg2520* | stop | 14 | 2 | NF | |||
| c.7617 + 1G > A | p.? | splice | 2 | 2 | Danish founder | |||
| c.8130del | p.Ser2710Argfs*23 | fs | 9 | 2 | NF | |||
| c.8323dup | p.Met2775Asnfs*7 | fs | 10 | 2 | NF | |||
| c.631 + 4A > G | p.? | splice | 11 | 2 | NF | |||
| c.9154C > T | p.Arg3052Trp | missense | 9 | 2 | NF | |||
| c.9699_9702del | p.Cys3233Trpfs*15 | fs | 12 | 2 | NF | |||
| del exon 19–21/c.(8331 + 1_8332–1)_(8754 + 1_8755–1)del | p.? | rearr | 1 | 1 | NPR | |||
| del exon 20/c.(8487 + 1_8488–1)_(8632 + 1_8633–1)del | p.? | rearr | 1 | 1 | NF | |||
| c.1296_1297del | p.Asn433Glnfs*18 | fs | 1 | 1 | NF | |||
| c.1429del | p.His477Ilefs*8 | fs | 10 | 1 | NPR | |||
| c.1456C > T | p.Gln486* | stop | 5 | 1 | NF | |||
| c.1642C > T | p.Gln548* | stop | 3 | 1 | NF | |||
| c.1658 T > G | p.Leu553* | stop | 4 | 1 | NF | |||
| c.1945C > T | p.Gln649* | stop | 4 | 1 | NF | |||
| c.2636_2637del | p.Ser879* | stop | 2 | 1 | NF | |||
| c.3158 T > G | p.Leu1053* | stop | 1 | 1 | NF | |||
| c.3307_3308dup | p-Leu1103Phefs*2 | fs | 1 | 1 | NPR | |||
| c.3545_3546del | p.Phe1182* | stop | 1 | 1 | NF | |||
| c.3596_3599del | p.Asp1199Valfs*9 | fs | 8 | 1 | NF | |||
| c.3720_3721del | p.Phe1241* | stop | 2 | 1 | NPR | |||
| c.3751dup | p.Thr1251Asnfs*14 | fs | 2 | 1 | NF | |||
| c.171del | p.Tyr57* | stop | 4 | 1 | NPR | |||
| c.3860del | p.Asn1287Ilefs*6 | fs | 1 | 1 | Austrian founder | |||
| c.196C > T | p.Gln66* | stop | 2 | 1 | NF | |||
| c.4095 T > A | p.Cys1365* | stop | 3 | 1 | NF | |||
| c.4258del | p.Asp1420Ilefs*28 | fs | 2 | 1 | Swedish founder | |||
| c.4710del | p.GLu1571Argfs*8 | fs | 1 | 1 | NF | |||
| c.4794_4797del | p.Asn1599Metfs*17 | fs | 1 | 1 | NF | |||
| c.5073dup | p.Trp1692Metfs*3 | fs | 1 | 1 | NF | |||
| c.316 + 1G > T | p.? | splice variant | 5 | 1 | NF | |||
| c.5577del | p.Val1862* | stop | 1 | 1 | NF | |||
| c.5645C > A | p.Ser1882* | stop | 7 | 1 | French founder | |||
| c.5682C > G | p.Tyr1894* | stop | 4 | 1 | NF | |||
| c.6034dup | p.Ser2012Phefs*6 | fs | 3 | 1 | NPR | |||
| c.6084_6088del | p.Glu2029Tyrfs*18 | fs | 5 | 1 | NPR | |||
| c.407del | p.Asn136 Ilefs*16 | fs | 1 | 1 | NF | |||
| c.6611dup | p.Val2205Cysfs*20 | fs | 2 | 1 | NF | |||
| c.6591_6592del | p.Glu2198Asnfs*4 | fs | 3 | 1 | NF | |||
| c.469_470del | p.Lys157Valfs*25 | fs | 3 | 1 | NF | |||
| c.7024C > T | p.Gln2342* | stop | 1 | 1 | NF | |||
| c.517-2A > G | p.? | splice variant | 2 | 1 | NF | |||
| c.7234del | p.Thr2412Leufs*57 | fs | 4 | 1 | NF | |||
| c.7673_7674del | p.Glu2558Valfs*7 | fs | 3 | 1 | NF | |||
| c.7680dup | p.Gln2561Serfs*5 | fs | 1 | 1 | NF | |||
| c.7753G > A | p.Gly2585Arg | missense | 1 | 1 | NF | |||
| c.7829dupT | p.Asp2611Glyfs*7 | fs | 1 | 1 | NF | |||
| c.7878G > C | p.Trp2626Cys | missense | 3 | 1 | NF | |||
| c.7913_7917del | p.Phe2638* | stop | 1 | 1 | Czech founder | |||
| c.8090_8105del | p.Ser2697Lysfs*31 | fs | 2 | 1 | NPR | |||
| c.8396dup | p.Pro2800Thyfs*12 | fs | 9 | 1 | NPR | |||
| c.658_659del | p.Val220Ilefs*4 | fs | 1 | 1 | Lithuanian founder | |||
| c.8878C > T | p.Gln2960* | stop | 1 | 1 | Korean | |||
| c.614delG | p.Ser205Ilefs*6 | fs | 4 | 1 | NPR | |||
| c.9127G > T | p.Glu3043* | stop | 1 | 1 | NF | |||
| c.9227del | p.Gly3076Aspfs*7 | fs | 2 | 1 | NF | |||
| c.9253dup | p.Thr3085Asnfs*26 | fs | 10 | 1 | NF | |||
| c.9382C > T | p.Arg3128* | stop | 1 | 1 | Jewish founder | |||
| c.9403del | p.Leu3135Phefs*28 | fs | 1 | 1 | NF | |||
| c.9523G > T | p.Glu3175* | stop | 3 | 1 | NF |
*Founders are reported with indication of origin, NF not founder through search, NPR not previously reported