Variants
BRIP1 variants
The 317 BRIP1 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 |
|---|---|---|---|---|---|
| A27Cfs*42 | c.78dup | Exon 2 | 61,861,461 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A349P | c.1045G>C | Exon 8 | 61,801,348 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A402Sfs*19 | c.1203_1204del | Exon 9 | 61,799,235 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A402Vfs*21 | c.1201_1204dup | Exon 9 | 61,799,235 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A551Kfs*41 | c.1645_1649dup | Exon 12 | 61,780,984 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A759Sfs*6 | c.2273dup | Exon 16 | 61,743,118 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.66C>A | Exon 2 | 61,861,474 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.73_93+14del | Intron 2 | 61,861,432 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.93+1G>A | Intron 2 | 61,861,446 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.93+1G>C | Intron 2 | 61,861,446 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.93+1G>T | Intron 2 | 61,861,446 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.93+2del | Intron 2 | 61,861,444 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.93+2T>C | Intron 2 | 61,861,445 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.94-1G>A | Intron 2 | 61,859,908 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.189G>A | Exon 3 | 61,859,812 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.204_205+1delinsAGT | Intron 3 | 61,859,795 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.205+1del | Intron 3 | 61,859,794 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.205+5G>T | Intron 3 | 61,859,791 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.440del | Exon 5 | 61,849,195 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.441_445delinsA | Exon 5 | 61,849,191 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.474del | Exon 5 | 61,849,161 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.507+1G>T | Intron 5 | 61,849,128 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.507G>A | Exon 5 | 61,849,129 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.507G>C | Exon 5 | 61,849,129 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.508-1G>C | Intron 5 | 61,847,221 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.508-1G>T | Intron 5 | 61,847,221 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.508-2A>C | Intron 5 | 61,847,222 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.508-2A>T | Intron 5 | 61,847,222 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.627_627+1insA | Intron 6 | 61,847,100 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.628-2A>G | Intron 6 | 61,808,759 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.918+1G>A | Intron 7 | 61,808,466 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.939T>A | Exon 8 | 61,801,454 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1140+1G>A | Intron 8 | 61,801,252 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1141-2A>C | Intron 8 | 61,799,301 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1141-2A>T | Intron 8 | 61,799,301 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1155_1162delinsATA | Exon 9 | 61,799,278 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1340+1G>A | Intron 9 | 61,799,099 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1340+2_1340+5del | Intron 9 | 61,799,094 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1341-1G>C | Intron 9 | 61,793,730 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1341-2A>C | Intron 9 | 61,793,731 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1473+1G>A | Intron 10 | 61,793,596 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1473+1G>C | Intron 10 | 61,793,596 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1473+1G>T | Intron 10 | 61,793,596 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1474-1G>A | Intron 10 | 61,784,425 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1474-2A>G | Intron 10 | 61,784,426 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1628+1G>C | Intron 11 | 61,784,269 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1628+5G>A | Intron 11 | 61,784,265 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1629-1G>C | Intron 11 | 61,781,006 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1629-1G>T | Intron 11 | 61,781,006 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1794+1G>A | Intron 12 | 61,780,839 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1794+1G>C | Intron 12 | 61,780,839 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1936-1G>A | Intron 13 | 61,776,563 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1936-2A>C | Intron 13 | 61,776,564 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1936-2A>G | Intron 13 | 61,776,564 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2097+2T>A | Intron 14 | 61,776,399 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2111T>G | Exon 15 | 61,744,578 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2124G>A | Exon 15 | 61,744,565 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2253_2254del | Exon 15 | 61,744,434 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2258-1G>A | Intron 15 | 61,743,135 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2258-1G>C | Intron 15 | 61,743,135 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2258-1G>T | Intron 15 | 61,743,135 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2370_2379+20del | Intron 16 | 61,742,992 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2379+1G>A | Intron 16 | 61,743,012 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2379+1G>T | Intron 16 | 61,743,012 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2380-1G>A | Intron 16 | 61,716,064 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2380-2A>C | Intron 16 | 61,716,065 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2380-45_2402delinsTTGACCATTTGAATGGT | Exon 17 | 61,716,041 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2400C>A | Exon 17 | 61,716,043 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2448G>A | Exon 17 | 61,715,995 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2492_2492+5del | Intron 17 | 61,715,945 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2492+1del | Intron 17 | 61,715,949 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2492+1G>C | Intron 17 | 61,715,950 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2492+2_2492+3insT | Intron 17 | 61,715,948 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2492+2T>C | Intron 17 | 61,715,949 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2493-2A>G | Intron 17 | 61,693,514 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2516G>A | Exon 18 | 61,693,489 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2575+1G>T | Intron 18 | 61,693,429 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2576-1G>A | Intron 18 | 61,686,166 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2576-1G>T | Intron 18 | 61,686,166 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2576-2A>G | Intron 18 | 61,686,167 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2905+1G>A | Intron 19 | 61,685,835 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| C90X | c.270C>A | Exon 4 | 61,857,167 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C693Ffs*23 | c.2078_2079del | Exon 14 | 61,776,418 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C761Vfs*5 | c.2281del | Exon 16 | 61,743,110 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D460Lfs*2 | c.1378_1379del | Exon 10 | 61,793,690 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D566Afs*24 | c.1697del | Exon 12 | 61,780,936 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D736X | c.2205dup | Exon 15 | 61,744,483 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D898Tfs*14 | c.2692del | Exon 19 | 61,686,048 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E45X | c.133G>T | Exon 3 | 61,859,868 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E81Kfs*20 | c.241del | Exon 4 | 61,857,195 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E130X | c.386dup | Exon 5 | 61,849,249 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E150X | c.448G>T | Exon 5 | 61,849,188 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E412Sfs*9 | c.1234_1235del | Exon 9 | 61,799,204 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E454X | c.1360G>T | Exon 10 | 61,793,710 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E458X | c.1372G>T | Exon 10 | 61,793,698 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E472X | c.1414G>T | Exon 10 | 61,793,656 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E501Gfs*9 | c.1502_1503del | Exon 11 | 61,784,394 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E501Rfs*10 | c.1500dup | Exon 11 | 61,784,397 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E515Kfs*11 | c.1543del | Exon 11 | 61,784,354 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E626D | c.1878A>T | Exon 13 | 61,780,318 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |