Variants
BRCA2 variants
Predicted effect: Frameshift. 1,940 of the 2,963 BRCA2 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| A22Qfs*3 | c.63del | Exon 2 | 32,316,520 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A39Lfs*41 | c.115del | Exon 3 | 32,319,123 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A75Dfs*26 | c.223_224insA | Exon 3 | 32,319,232 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A127Sfs*3 | c.378dup | Exon 4 | 32,325,135 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A199Hfs*11 | c.595_598del | Exon 7 | 32,326,574 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A248Vfs*3 | c.743del | Exon 9 | 32,330,979 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A483Gfs*31 | c.1447dup | Exon 10 | 32,332,924 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A483Qfs*2 | c.1444del | Exon 10 | 32,332,921 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A495Ffs*17 | c.1482_1486del | Exon 10 | 32,332,958 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A518Qfs*7 | c.1552del | Exon 10 | 32,333,029 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A565Pfs*7 | c.1693_1696del | Exon 10 | 32,333,166 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A618Sfs*4 | c.1851dup | Exon 10 | 32,333,328 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A634Lfs*11 | c.1899_1900insTT | Exon 10 | 32,333,376 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A634Vfs*10 | c.1901del | Exon 10 | 32,333,378 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A634Vfs*11 | c.1900_1901insTT | Exon 10 | 32,333,378 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A735Kfs*38 | c.2202_2203insAA | Exon 11 | 32,336,557 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A735Rfs*38 | c.2201_2202insAA | Exon 11 | 32,336,556 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A736Qfs*36 | c.2206del | Exon 11 | 32,336,560 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A737Hfs*35 | c.2208del | Exon 11 | 32,336,562 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A737Pfs*11 | c.2209_2216del | Exon 11 | 32,336,561 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A843Sfs*38 | c.2526dup | Exon 11 | 32,336,880 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A895Vfs*9 | c.2684del | Exon 11 | 32,337,038 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A902Lfs*2 | c.2701del | Exon 11 | 32,337,055 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A938Pfs*21 | c.2808_2811del | Exon 11 | 32,337,160 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A1109Efs*10 | c.3326del | Exon 11 | 32,337,680 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A1237Sfs*6 | c.3708dup | Exon 11 | 32,338,058 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A1237Vfs*2 | c.3710del | Exon 11 | 32,338,064 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A1327Cfs*4 | c.3975_3978dup | Exon 11 | 32,338,329 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A1327Lfs*4 | c.3978_3979insTTGC | Exon 11 | 32,338,333 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A1393Gfs*10 | c.4177dup | Exon 11 | 32,338,531 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A1393Rfs*17 | c.4176del | Exon 11 | 32,338,529 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A1411Cfs*3 | c.4229_4230insA | Exon 11 | 32,338,584 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A1439Pfs*9 | c.4314del | Exon 11 | 32,338,668 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A1439Sfs*10 | c.4312_4313dup | Exon 11 | 32,338,664 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A1689Kfs*6 | c.5065_5066delinsAAA | Exon 11 | 32,339,420 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A1797Efs*8 | c.5390del | Exon 11 | 32,339,744 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A1797Kfs*9 | c.5389_5390del | Exon 11 | 32,339,743 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A1825Sfs*4 | c.5472_5473insA | Exon 11 | 32,339,827 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A1843Hfs*4 | c.5526del | Exon 11 | 32,339,880 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A1922Cfs*2 | c.5763dup | Exon 11 | 32,340,113 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A1996Sfs*7 | c.5985_5986insA | Exon 11 | 32,340,340 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A2185Lfs*6 | c.6553del | Exon 11 | 32,340,906 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A2227Qfs*2 | c.6678del | Exon 11 | 32,341,031 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A2231Vfs*10 | c.6692del | Exon 11 | 32,341,046 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A2233Lfs*8 | c.6696del | Exon 11 | 32,341,048 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A2233Vfs*8 | c.6698del | Exon 11 | 32,341,052 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A2513Efs*11 | c.7538del | Exon 15 | 32,356,529 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A2526Qfs*2 | c.7575del | Exon 15 | 32,356,566 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A2534Lfs*18 | c.7595_7596insTT | Exon 15 | 32,356,587 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A2557Sfs*9 | c.7668_7669insA | Exon 16 | 32,357,792 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A2582Lfs*66 | c.7744del | Exon 16 | 32,357,866 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A2595Gfs*8 | c.7781dup | Exon 16 | 32,357,902 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A2671Gfs*2 | c.8012_8034del | Exon 18 | 32,363,211 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A2764Gfs*6 | c.8290dup | Exon 18 | 32,363,491 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A2770Pfs*7 | c.8308del | Exon 18 | 32,363,509 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A2786Lfs*35 | c.8356del | Exon 19 | 32,370,425 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A2825Dfs*38 | c.8474del | Exon 19 | 32,370,543 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A2951Gfs*26 | c.8850_8851dup | Exon 22 | 32,379,411 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A3012Gfs*6 | c.9034dup | Exon 23 | 32,379,829 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A3023Kfs*6 | c.9066_9067insAA | Exon 23 | 32,379,861 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A3088Gfs*23 | c.9262dup | Exon 25 | 32,394,693 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A3088Pfs*16 | c.9262del | Exon 25 | 32,394,693 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A3140Lfs*19 | c.9418_9430del | Exon 25 | 32,394,846 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A3148Cfs*2 | c.9440dup | Exon 25 | 32,394,871 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A3270Pfs*5 | c.9808del | Exon 27 | 32,398,320 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.774_775del | Exon 9 | 32,331,009 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.800dup | Exon 10 | 32,332,276 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.995_996insA | Exon 10 | 32,332,473 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1188_1189insTTAG | Exon 10 | 32,332,666 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1188_1189insTTAT | Exon 10 | 32,332,665 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1189_1190insTTAT | Exon 10 | 32,332,667 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1308_1309del | Exon 10 | 32,332,784 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1587delinsCA | Exon 10 | 32,333,065 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1798_1802del | Exon 10 | 32,333,275 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1853_1854insA | Exon 10 | 32,333,331 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1854_1855insA | Exon 10 | 32,333,332 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1933del | Exon 11 | 32,336,284 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2025del | Exon 11 | 32,336,379 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2256del | Exon 11 | 32,336,610 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2621_2622insG | Exon 11 | 32,336,976 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2703del | Exon 11 | 32,337,056 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2805_2808del | Exon 11 | 32,337,158 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2812_2815del | Exon 11 | 32,337,163 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2835del | Exon 11 | 32,337,184 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2957dup | Exon 11 | 32,337,305 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.3201del | Exon 11 | 32,337,555 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.3263dup | Exon 11 | 32,337,614 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.3343del | Exon 11 | 32,337,695 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.3688del | Exon 11 | 32,338,040 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.3723del | Exon 11 | 32,338,075 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.4101del | Exon 11 | 32,338,453 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.4638_4640delinsGG | Exon 11 | 32,338,993 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.4821_4822del | Exon 11 | 32,339,175 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.4824_4825del | Exon 11 | 32,339,176 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.4936del | Exon 11 | 32,339,290 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.5154_5158del | Exon 11 | 32,339,508 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.5592_5593del | Exon 11 | 32,339,945 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.5606_5607insC | Exon 11 | 32,339,961 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.5653dup | Exon 11 | 32,340,005 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.5723_5724del | Exon 11 | 32,340,077 | Pathogenic | 3 stars out of 4 reviewed by expert panel |