BAP1
BRCA1 associated deubiquitinase 1
Summary
This gene belongs to the ubiquitin C-terminal hydrolase subfamily of deubiquitinating enzymes that are involved in the removal of ubiquitin from proteins. The encoded enzyme binds to the breast cancer type 1 susceptibility protein (BRCA1) via the RING finger domain of the latter and acts as a tumor suppressor. In addition, the enzyme may be involved in regulation of transcription, regulation of cell cycle and growth, response to DNA damage and chromatin dynamics. Germline mutations in this gene may be associated with tumor predisposition syndrome (TPDS), which involves increased risk of cancers including malignant mesothelioma, uveal melanoma and cutaneous melanoma. [provided by RefSeq, May 2013]
Known Variants1,902 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs376927338 | 3:52,435,140 | C/A | — | uncertain significance |
| rs886058700 | 3:52,435,240 | G/A | — | uncertain significance |
| rs9855479 | 3:52,435,330 | G/A | — | benign |
| rs1704949793 | 3:52,435,428 | G/A | — | uncertain significance |
| rs1704950944 | 3:52,435,457 | G/A | — | uncertain significance |
| rs886058701 | 3:52,435,474 | A/G | — | uncertain significance |
| rs560014343 | 3:52,435,496 | A/G | — | uncertain significance |
| rs1481791777 | 3:52,435,534 | A/G | — | uncertain significance |
| rs1000745082 | 3:52,435,554 | T/C | — | uncertain significance |
| rs766301450 | 3:52,435,607 | C/T | — | uncertain significance |
| rs374367093 | 3:52,435,661 | C/T | — | benign |
| rs773360470 | 3:52,435,663 | G/A | — | uncertain significance |
| rs144145384 | 3:52,435,731 | C/T | — | benign |
| rs767310296 | 3:52,435,747 | G/A | — | uncertain significance |
| rs886058702 | 3:52,435,752 | G/T | — | uncertain significance |
| rs886058703 | 3:52,435,819 | C/A | — | uncertain significance |
| rs123598 | 3:52,435,860 | G/A | — | likely benign |
| rs146324979 | 3:52,435,863 | C/A | — | likely benign |
| rs112026686 | 3:52,435,912 | G/A | — | likely benign |
| rs143014714 | 3:52,435,919 | T/A | — | benign |
| rs1704968799 | 3:52,435,954 | G/T | — | uncertain significance |
| rs150842955 | 3:52,436,004 | T/C | — | benign |
| rs1025502515 | 3:52,436,012 | C/T | — | uncertain significance |
| rs886058704 | 3:52,436,082 | C/G | — | uncertain significance |
| rs564062251 | 3:52,436,244 | G/A | — | uncertain significance |
| rs56898787 | 3:52,436,259 | G/C | — | benign |
| rs139307137 | 3:52,436,267 | C/T | — | likely benign |
| rs375252451 | 3:52,436,268 | G/A | — | uncertain significance |
| rs1559584490 | 3:52,436,284 | A/G | — | likely benign |
| rs1420552937 | 3:52,436,287 | G/C | — | likely benign |
| rs1411968638 | 3:52,436,289 | C/T | — | uncertain significance |
| rs748022925 | 3:52,436,301 | T/C | — | conflicting classifications of pathogenicity |
| rs771713346 | 3:52,436,305 | C/T | — | likely benign |
| rs1704980243 | 3:52,436,306 | A/G | — | likely pathogenic |
| rs1341689711 | 3:52,436,307 | C/A | — | conflicting classifications of pathogenicity |
| rs2471318234 | 3:52,436,308 | T/A | — | uncertain significance |
| rs1412940366 | 3:52,436,309 | G/A | — | conflicting classifications of pathogenicity |
| rs773230722 | 3:52,436,311 | C/A | — | conflicting classifications of pathogenicity |
| rs1704980796 | 3:52,436,312 | G/A | — | uncertain significance |
| rs1704980882 | 3:52,436,313 | C/A | — | uncertain significance |
| rs2471318308 | 3:52,436,314 | T/C | — | uncertain significance |
| rs2471318319 | 3:52,436,317 | G/A | — | uncertain significance |
| rs2471318330 | 3:52,436,318 | C/T | — | uncertain significance |
| rs760537008 | 3:52,436,319 | C/T | — | conflicting classifications of pathogenicity |
| rs2153226092 | 3:52,436,322 | G/A | — | likely benign |
| rs2471318372 | 3:52,436,323 | T/C | — | uncertain significance |
| rs1578217988 | 3:52,436,325 | G/C | — | likely benign |
| rs1559584547 | 3:52,436,326 | G/A | — | uncertain significance |
| rs1553644518 | 3:52,436,327 | G/A | — | uncertain significance |
| rs1230324368 | 3:52,436,328 | G/T | — | likely benign |
| rs1272136993 | 3:52,436,329 | C/T | — | conflicting classifications of pathogenicity |
| rs771007826 | 3:52,436,330 | G/A | — | uncertain significance |
| rs1553644521 | 3:52,436,332 | G/C | — | uncertain significance |
| rs1704981881 | 3:52,436,334 | G/C | — | likely benign |
| rs776746400 | 3:52,436,335 | C/T | — | conflicting classifications of pathogenicity |
| rs759611495 | 3:52,436,336 | G/A | — | uncertain significance |
| rs2471318446 | 3:52,436,340 | C/T | — | likely benign |
| rs1440748203 | 3:52,436,341 | C/T | — | uncertain significance |
| rs1186981831 | 3:52,436,342 | G/A | — | uncertain significance |
| rs2153226093 | 3:52,436,343 | C/T | — | likely benign |
| rs765539314 | 3:52,436,344 | C/T | — | conflicting classifications of pathogenicity |
| rs1451498951 | 3:52,436,345 | G/A | — | uncertain significance |
| rs1704982728 | 3:52,436,348 | C/G | — | uncertain significance |
| rs1057522124 | 3:52,436,349 | A/G | — | likely benign |
| rs1704982902 | 3:52,436,351 | G/C | — | uncertain significance |
| rs1178202774 | 3:52,436,352 | C/G | — | uncertain significance |
| rs1435755592 | 3:52,436,356 | C/T | — | uncertain significance |
| rs1704983297 | 3:52,436,357 | G/A | — | uncertain significance |
| rs1174809043 | 3:52,436,358 | C/T | — | conflicting classifications of pathogenicity |
| rs2153226096 | 3:52,436,359 | T/G | — | uncertain significance |
| rs2153226098 | 3:52,436,361 | C/A | — | uncertain significance |
| rs1412259769 | 3:52,436,367 | G/A | — | likely benign |
| rs1332999409 | 3:52,436,370 | C/T | — | likely benign |
| rs1704983938 | 3:52,436,371 | C/T | — | uncertain significance |
| rs1345279795 | 3:52,436,372 | G/A | — | conflicting classifications of pathogenicity |
| rs763400204 | 3:52,436,373 | G/A | — | likely benign |
| rs1294983956 | 3:52,436,375 | C/T | — | uncertain significance |
| rs201122466 | 3:52,436,376 | G/A | — | likely benign |
| rs1433920975 | 3:52,436,378 | T/C | — | uncertain significance |
| rs1234811156 | 3:52,436,379 | G/C | — | uncertain significance |
| rs1704984916 | 3:52,436,380 | C/G | — | uncertain significance |
| rs1276510932 | 3:52,436,382 | G/A | — | conflicting classifications of pathogenicity |
| rs1704985151 | 3:52,436,383 | A/G | — | uncertain significance |
| rs1704985255 | 3:52,436,384 | C/A | — | uncertain significance |
| rs2471318850 | 3:52,436,385 | C/T | — | likely benign |
| rs757780962 | 3:52,436,391 | G/A | — | likely benign |
| rs1704985467 | 3:52,436,392 | C/T | — | uncertain significance |
| rs1244342890 | 3:52,436,393 | G/A | — | conflicting classifications of pathogenicity |
| rs1704985729 | 3:52,436,395 | C/T | — | uncertain significance |
| rs1284965361 | 3:52,436,396 | G/A | — | uncertain significance |
| rs1466334306 | 3:52,436,398 | C/T | — | conflicting classifications of pathogenicity |
| rs372987719 | 3:52,436,399 | G/T | — | conflicting classifications of pathogenicity |
| rs2471318950 | 3:52,436,400 | C/G | — | likely benign |
| rs753438711 | 3:52,436,402 | C/T | — | uncertain significance |
| rs754513396 | 3:52,436,403 | G/A | — | likely benign |
| rs778647638 | 3:52,436,406 | G/C | — | uncertain significance |
| rs1704986494 | 3:52,436,408 | T/C | — | uncertain significance |
| rs2153226116 | 3:52,436,409 | G/A | — | likely benign |
| rs1704986594 | 3:52,436,412 | C/T | — | likely benign |
| rs2471319048 | 3:52,436,414 | G/A | — | uncertain significance |
Showing 100 of 1,902 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.