Variants
BRCA2 variants
The 2963 BRCA2 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
| 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 |
| A1725X | c.5171_5172dup | Exon 11 | 32,339,523 | 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 |
| A2487X | c.7459_7484del | Exon 15 | 32,356,446 | 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 |
| A2730P | c.8188G>C | Exon 18 | 32,363,390 | Likely 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 |
| A3122P | c.9364G>C | Exon 25 | 32,394,796 | Likely 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.-40+1G>A | Intron 1 | 32,315,668 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.3G>AM231I | Exon 2 | 32,316,463 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.37_44del | Exon 2 | 32,316,492 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.37G>T | Exon 2 | 32,316,497 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.67+1G>TIVS2+1G>T | Intron 2 | 32,316,528 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.71_96del | Exon 3 | 32,319,077 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.71del | Exon 3 | 32,319,077 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.71T>G | Exon 3 | 32,319,080 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.93G>A | Exon 3 | 32,319,102 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.110C>G | Exon 3 | 32,319,119 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.171C>A | Exon 3 | 32,319,180 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.171C>G | Exon 3 | 32,319,180 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.171del | Exon 3 | 32,319,179 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.273C>G | Exon 3 | 32,319,282 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.277_317-726delinsCCAT | Exon 3 | 32,319,286 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.316+1G>T | Intron 3 | 32,319,326 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.316+2T>CIVS3+2T>C | Intron 3 | 32,319,327 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.316+3del | Intron 3 | 32,319,327 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.316+5G>AIVS3+5G>A | Intron 3 | 32,319,330 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.316+5G>C | Intron 3 | 32,319,330 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.465_466insT | Exon 5 | 32,326,140 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.466_467del | Exon 5 | 32,326,137 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.475+1G>AIVS5+1G>A | Intron 5 | 32,326,151 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.475+1G>TIVS5+1G>T | Intron 5 | 32,326,151 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.476-2A>GIVS5-2A>G | Intron 5 | 32,326,240 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.516G>AK172K | Exon 6 | 32,326,282 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.517-1del746delG | Intron 6 | 32,326,497 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.517-2A>GIVS6-2A>G | Intron 6 | 32,326,497 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.581G>A | Exon 7 | 32,326,563 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.631+2T>GIVS7+2T>G | Intron 7 | 32,326,615 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.631+4A>G | Intron 7 | 32,326,617 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |