Variants
BRCA1 variants
The 2450 BRCA1 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 |
|---|---|---|---|---|---|
| A92Ffs*4 | c.273_274del | Exon 5 | 43,104,894 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A134Qfs*7 | c.399_400del | Exon 6 | 43,104,162 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A302Cfs*2 | c.903_904insT | Exon 10 | 43,094,627 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A302Lfs*12 | c.904del | Exon 10 | 43,094,626 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A322Kfs*2 | c.964_968del | Exon 10 | 43,094,562 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A322Lfs*19 | c.964del | Exon 10 | 43,094,566 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A407Sfs*5 | c.1218_1219insA | Exon 10 | 43,094,312 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A433Pfs*8 | c.1297del | Exon 10 | 43,094,233 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A469Qfs*6 | c.1405del | Exon 10 | 43,094,125 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A521X | c.1561_1564delinsTAAA | Exon 10 | 43,093,967 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A524Gfs*7 | c.1566_1567insC | Exon 10 | 43,093,964 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A524Qfs*8 | c.1570del | Exon 10 | 43,093,960 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A605Hfs*7 | c.1812del | Exon 10 | 43,093,718 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A794Gfs*7 | c.2378dup | Exon 10 | 43,093,152 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A807Hfs*8 | c.2418del | Exon 10 | 43,093,112 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A807Sfs*3 | c.2418dup | Exon 10 | 43,093,112 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A854Vfs*47 | c.2561_2565del | Exon 10 | 43,092,965 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A883Gfs*21 | c.2647_2648insGGCA | Exon 10 | 43,092,883 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A887Dfs*16 | c.2659_2660insA | Exon 10 | 43,092,871 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A887Gfs*16 | c.2659dup | Exon 10 | 43,092,871 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A887Sfs*16 | c.2658_2659insA | Exon 10 | 43,092,872 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A927Cfs*11 | c.2778dup | Exon 10 | 43,092,752 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A927Mfs*74 | c.2778_2779insAT | Exon 10 | 43,092,752 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A1039Kfs*6 | c.3114_3117delinsGA | Exon 10 | 43,092,414 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A1039Pfs*9 | c.3115del | Exon 10 | 43,092,415 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A1070Vfs*12 | c.3150_3208dup | Exon 10 | 43,092,322 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A1142Hfs*13 | c.3424del | Exon 10 | 43,092,106 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A1166Lfs*44 | c.3496del | Exon 10 | 43,092,034 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A1199Vfs*9 | c.3596_3602del | Exon 10 | 43,091,928 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A1206Pfs*4 | c.3612del | Exon 10 | 43,091,918 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A1279Gfs*8 | c.3830dup | Exon 10 | 43,091,700 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A1279Hfs*28 | c.3835del | Exon 10 | 43,091,695 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A1293Lfs*14 | c.3876del | Exon 10 | 43,091,654 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A1453Gfs*10 | c.4358_4484del | Intron 13 | 43,076,487 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A1615Gfs*7 | c.4843dup | Exon 15 | 43,071,070 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A1615Sfs*7 | c.4841dup | Exon 15 | 43,071,072 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A1627Cfs*52 | c.4878dup | Exon 15 | 43,071,035 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A1641Lfs*17 | c.4921del | Exon 15 | 43,070,992 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A1669Pfs*8 | c.5005del | Exon 16 | 43,067,676 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A1708E | c.5123C>A | Exon 17 | 43,063,903 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A1708Gfs*6 | c.5123del | Exon 17 | 43,063,902 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A1789T | c.5365G>A | Exon 21 | 43,049,162 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A1789Vfs*4 | c.5366del | Exon 21 | 43,049,160 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A1814Pfs*20 | c.5440del | Exon 22 | 43,047,669 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A1823Cfs*7 | c.5466dup | Exon 22 | 43,047,643 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A1843E | c.5528C>A | Exon 23 | 43,045,742 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.3G>T | Exon 2 | 43,124,094 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.36_39del | Exon 2 | 43,124,057 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.62dup | Exon 2 | 43,124,034 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.65del | Exon 2 | 43,124,031 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.69dup | Exon 2 | 43,124,027 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.71_72insA | Exon 2 | 43,124,025 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.74_75del | Exon 2 | 43,124,021 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.80+4A>TIVS2+4A>T | Intron 2 | 43,124,013 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.81-6T>A | Intron 2 | 43,115,785 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.81-9C>GIVS2-9C>G | Intron 2 | 43,115,788 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.132C>T | Exon 3 | 43,115,728 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.134+3A>T | Intron 3 | 43,115,723 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.135-1G>TIVS3-1G>T | Intron 3 | 43,106,534 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.190_191insAATGTAAGGATGATATAAA | Exon 4 | 43,106,477 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.212+1G>AIVS5+1G>Adel22 | Intron 4 | 43,106,455 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.212+1G>TIVS5+1G>T | Intron 4 | 43,106,455 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.212+3A>GIVS5+3A>G | Intron 4 | 43,106,453 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.213-12A>GIVS5-12A>G | Intron 4 | 43,104,968 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.213-15A>G | Intron 4 | 43,104,971 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.302-1G>CIVS6-1G>C | Intron 5 | 43,104,262 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.302-2delIVS6-2delA | Intron 5 | 43,104,262 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.303T>A | Exon 6 | 43,104,260 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.390C>G | Exon 6 | 43,104,173 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.441+2T>GIVS7+2T>G | Intron 6 | 43,104,120 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.442-22_442-13del | Intron 6 | 43,099,892 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.456_457del | Exon 7 | 43,099,864 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.519del | Exon 7 | 43,099,802 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.547+1G>TIVS8+1G>T | Intron 7 | 43,099,774 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.547+2T>AIVS8+2T>A | Intron 7 | 43,099,773 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.737T>A | Exon 10 | 43,094,794 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.800C>A | Exon 10 | 43,094,731 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.848_879del | Exon 10 | 43,094,651 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.848T>G | Exon 10 | 43,094,683 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.949_953del | Exon 10 | 43,094,577 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.963G>A | Exon 10 | 43,094,568 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.984_988del | Exon 10 | 43,094,542 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1018dup | Exon 10 | 43,094,512 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1044_1045del | Exon 10 | 43,094,485 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1044_1047del | Exon 10 | 43,094,483 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1059G>A | Exon 10 | 43,094,472 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1082_1092del | Exon 10 | 43,094,438 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1086_1141del | Exon 10 | 43,094,389 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1102G>T | Exon 10 | 43,094,429 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1110del | Exon 10 | 43,094,420 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1116G>A | Exon 10 | 43,094,415 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1193C>G | Exon 10 | 43,094,338 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1214C>G | Exon 10 | 43,094,317 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1266T>G | Exon 10 | 43,094,265 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1277C>G | Exon 10 | 43,094,254 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1277del | Exon 10 | 43,094,253 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1319T>G | Exon 10 | 43,094,212 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1352C>G | Exon 10 | 43,094,179 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1383del | Exon 10 | 43,094,147 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1386del | Exon 10 | 43,094,144 | Pathogenic | 3 stars out of 4 reviewed by expert panel |