Variants
BRCA2 variants
Predicted effect: Splice site or region. 132 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 |
|---|---|---|---|---|---|
| c.-40+1G>A | Intron 1 | 32,315,668 | Likely 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.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.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.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 | |
| c.632-1G>A | Intron 7 | 32,329,442 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.632-2A>G | Intron 7 | 32,329,441 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.632-3C>GIVS7-3C>G | Intron 7 | 32,329,440 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.682-2A>GIVS8-2A>G | Intron 8 | 32,330,917 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.6938-2A>GIVS12-2A>G | Intron 12 | 32,346,825 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.7008-1G>A | Intron 13 | 32,354,860 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.7008-2A>GIVS13-2A>G | Intron 13 | 32,354,859 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.7008-2A>TIVS13-2A>T | Intron 13 | 32,354,859 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.7617+1G>AIVS15+1G>A | Intron 15 | 32,356,610 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.7617+2T>GIVS15+2T>G | Intron 15 | 32,356,611 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.7618-1G>AIVS15-1G>A | Intron 15 | 32,357,741 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.7618-2A>G | Intron 15 | 32,357,740 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.7805+3A>CIVS16+3A>C | Intron 16 | 32,357,932 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.7806-1_7806insGA8034insAG | Intron 16 | 32,362,522 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.7806-2A>GIVS16-2A>G | Intron 16 | 32,362,521 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.7806-3_7806-2insAG | Intron 16 | 32,362,520 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.7976+1G>AIVS17+1G>A | Intron 17 | 32,362,694 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.7976+5G>T | Intron 17 | 32,362,698 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.7977-1_7980del8208del5-ter2665 | Intron 17 | 32,363,177 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.7977-1G>CIVS17-1G>C | Intron 17 | 32,363,178 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.8487+1G>AIVS19+1G>A | Intron 19 | 32,370,558 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.8488-1_8488del | Intron 19 | 32,370,954 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.8488-1G>AIVS19-1G>A | Intron 19 | 32,370,955 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.8632+1G>AIVS20+1G>A | Intron 20 | 32,371,101 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.8633-1_8633insA8864insA | Intron 20 | 32,376,669 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.8633-2A>GIVS20-2A>G | Intron 20 | 32,376,668 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.8633-27_8633-2del | Intron 20 | 32,376,642 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.8754+4A>GIVS21+4A>G | Intron 21 | 32,376,795 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.8754+4A>T | Intron 21 | 32,376,795 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.8754+5G>C | Intron 21 | 32,376,796 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.8755-1del8984delG | Intron 21 | 32,379,315 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.8755-1G>AIVS21-1G>A | Intron 21 | 32,379,316 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.8755-9T>AIVS21-9T>A | Intron 21 | 32,379,308 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.8953+1G>TIVS22+1G>T | Intron 22 | 32,379,516 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.8954-1_8955delinsAA | Intron 22 | 32,379,749 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.8954-3C>GIVS22-3C>G | Intron 22 | 32,379,747 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.9117G>AP3039P | Exon 23 | 32,379,913 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.9118-2A>GIVS23-2A>G | Intron 23 | 32,380,005 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| V144Cfs*14 | c.428dup | Exon 5 | 32,326,101 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.-39-1G>C | Intron 1 | 32,316,421 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.-39-2_-39-1del | Intron 1 | 32,316,419 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.-39-2A>G | Intron 1 | 32,316,420 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.67+1G>AIVS2+1G>A | Intron 2 | 32,316,528 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.67+1G>C | Intron 2 | 32,316,528 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.67+2T>CIVS2+2T>C | Intron 2 | 32,316,529 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.425+2T>C | Intron 4 | 32,325,186 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.426-2A>GIVS4-2A>G | Intron 4 | 32,326,099 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.475+4delIVS5+4delT | Intron 5 | 32,326,153 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.475+5G>T | Intron 5 | 32,326,155 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.476-4_476-1delinsT | Intron 5 | 32,326,238 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.516+1G>A | Intron 6 | 32,326,283 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.516+1G>T | Intron 6 | 32,326,283 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.516+2T>A | Intron 6 | 32,326,284 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.516+2T>G | Intron 6 | 32,326,284 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.517-1G>AIVS6-1G>A | Intron 6 | 32,326,498 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.631+1G>AIVS7+1G>A | Intron 7 | 32,326,614 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.631+2T>A | Intron 7 | 32,326,615 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.631+3A>G | Intron 7 | 32,326,616 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.681+1_681+2insT | Intron 8 | 32,329,493 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.681+4A>G | Intron 8 | 32,329,496 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.793+1G>AIVS9+1G>A | Intron 9 | 32,331,031 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.793+1G>TIVS9+1G>T | Intron 9 | 32,331,031 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.793+2T>G | Intron 9 | 32,331,032 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.794-1G>A | Intron 9 | 32,332,271 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1909+1G>A | Intron 10 | 32,333,388 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1910-1G>T | Intron 10 | 32,336,264 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.6841+1G>A | Intron 11 | 32,341,197 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.6938-1G>A | Intron 12 | 32,346,826 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.7007+1G>C | Intron 13 | 32,346,897 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.7436-1G>A | Intron 14 | 32,356,427 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.7436-1G>T | Intron 14 | 32,356,427 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.7436-2A>T | Intron 14 | 32,356,426 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.7617+1G>C | Intron 15 | 32,356,610 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.7617+1G>T | Intron 15 | 32,356,610 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.7618-10T>G | Intron 15 | 32,357,732 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.7805+1G>AIVS16+1G>A | Intron 16 | 32,357,930 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.7806-1G>C | Intron 16 | 32,362,522 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.7806-1G>TIVS16-1G>T | Intron 16 | 32,362,522 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.7976+2C>G | Intron 17 | 32,362,695 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.7976+5G>A | Intron 17 | 32,362,698 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.7977-2del | Intron 17 | 32,363,176 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.8331+1G>AIVS18+1G>A | Intron 18 | 32,363,534 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.8331+2T>C | Intron 18 | 32,363,535 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.8331+2T>G | Intron 18 | 32,363,535 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |