From: Germline variants profiling of BRCA1 and BRCA2 in Chinese Hakka breast and ovarian cancer patients
Gene | Exon/Intron | Mutation | Amino acid change | ClinVar | Number of patients |
---|---|---|---|---|---|
BRCA1 | Exon 5 | c.5212G > A | p.Gly1738Arg | Pathogenic | 1 |
BRCA1 | Exon 5 | c.5209dupA | p.Arg1737Lysfs*93 | Pathogenic | 1 |
BRCA1 | Intron 5 | c.5194-2A > G | - | Likely pathogenic | 1 |
BRCA1 | Exon 7 | c.5096G > A | p.Arg1699Gln | Likely pathogenic | 1 |
BRCA1 | Exon 8 | c.5072C > A | p.Thr1691Lys | Likely pathogenic | 4 |
BRCA1 | Intron 7 | c.4987-5 T > C | - | Pathogenic | 1 |
BRCA1 | Intron 7 | c.4986 + 5G > A | - | Likely pathogenic | 1 |
BRCA1 | Exon 10 | c.4624_4628del | p.Ser1542Alafs*30 | Pathogenic | 1 |
BRCA1 | Exon 11 | c.4484G > A | p.Arg1495Lys | Pathogenic | 1 |
BRCA1 | Exon 11 | c.4467delA | p.Glu1490Asnfs*15 | Pathogenic | 2 |
BRCA1 | Exon 12 | c.4342delA | p.Ser1448Alafs*8 | Pathogenic | 1 |
BRCA1 | Exon 12 | c.4237delG | p.Glu1413Asnfs*2 | Pathogenic | 1 |
BRCA1 | Exon 13 | c.4161_4162del | p.Gln1388Glufs*2 | Pathogenic | 1 |
BRCA1 | Exon 14 | c.4065_4068del | p.Asn1355Lysfs*10 | Pathogenic | 2 |
BRCA1 | Exon 14 | c.4041_4042del | p.Gly1348Asnfs*7 | Pathogenic | 1 |
BRCA1 | Exon 14 | c.3823dupA | p.Ile1275Asnfs*12 | Pathogenic | 1 |
BRCA1 | Exon 14 | c.3817C > T | p.Gln1273* | Pathogenic | 1 |
BRCA1 | Exon 14 | c.3756_3759del | p.Ser1253Argfs*10 | Pathogenic | 5 |
BRCA1 | Exon 14 | c.3607C > T | p.Arg1203Ter | Pathogenic | 1 |
BRCA1 | Exon 14 | c.3333delA | p.Glu1112Asnfs*5 | Pathogenic | 1 |
BRCA1 | Exon 14 | c.2764_2767del | p.Thr922Leufs*77 | Pathogenic | 1 |
BRCA1 | Exon 14 | c.2635G > T | p.Glu879* | Pathogenic | 7 |
BRCA1 | Exon 14 | c.2253_2254del | p.Met751Ilefs*10 | Pathogenic | 1 |
BRCA1 | Exon 14 | c.1961delA | p.Lys654Serfs*47 | Pathogenic | 1 |
BRCA1 | Exon 14 | c.1960_1961del | p.Lys654Valfs*18 | Pathogenic | 1 |
BRCA1 | Exon 14 | c.1881_1884del | p.Ser628Glufs*3 | Pathogenic | 1 |
BRCA1 | Exon 14 | c.1483G > T | p.Glu495* | Pathogenic | 1 |
BRCA1 | Exon 14 | c.1193C > A | p.Ser398* | Pathogenic | 1 |
BRCA1 | Exon 14 | c.981_982del | p.Cys328* | Pathogenic | 2 |
BRCA1 | Exon 14 | c.968delG | p.Gly323Glufs*18 | Pathogenic | 1 |
BRCA1 | Exon 14 | c.938 T > G | p.Leu313* | Pathogenic | 1 |
BRCA1 | Intron 14 | c.671-1G > T | - | Likely pathogenic | 1 |
BRCA1 | Exon 17 | c.520C > T | p.Gln174* | Pathogenic | 1 |
BRCA1 | Exon 17 | c.470_471del | p.Ser157* | Pathogenic | 2 |
BRCA1 | Intron 19 | c.212 + 3A > G | - | Pathogenic | 1 |
BRCA1 | Exon 20 | c.140G > T | p.Cys47Phe | Likely pathogenic | 1 |
BRCA1 | Exon 22 | c.66dupA | p.Glu23Argfs*18 | Pathogenic | 2 |
BRCA1 | Exon 22 | c.1A > G | p.Met1Val | Pathogenic | 1 |