Variants
BRIP1 variants
Predicted effect: Splice site or region. 61 of 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.
| Variant | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|
| 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.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.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.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.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.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.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.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.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 |