- The clinically significant variant NM_007294: c.1016delA was identified in exon 10 of the BRCA1 gene. No Pathogenic BRCA2 mutation or rearrangment detected | |
- Pathogenic mutation in BRCA1 gene. c.140G > T (p.Cys47Phe) | |
- c.68_69del (p.Glu23Valfs*17) | |
- c.3436_3439 delTGTT P.CYS1146FS | |
- c.2269del (p.Val757Phefs*8) in BRCA 1 | |
- BRCA1: c.4096G > C(p.Gly1366Arg), variant of uncertain significance BRCA2: c.10150C > T(p.Arg3384Ter), variant of uncertain significance | |
- BRCA1: c.2521C > T p.Arg841Trp BRCA1: c.1723G > A p.Glu575Lys | |
- BRCA1: c.237del (p.Phe79Leufs*9) BRCA2: None Detected | |
- BRCA1 mutation c.213-1A > T | |
- BRCA1 c.5107-5108delGAinsTG p.Glu1703Ter likely pathogenic | |
- c.4065_4065del | |
- BRCA1: pathogenic mutation detected. c.1716delA, p. (Glu572*) BRCA2: None Detected | |
- BRCA1 gene deleterious mutation c.4658del (p.Leu1553Cysfs*6) | |
- BRCA1 gene deleterious mutation c.1140dupG(p.Lys381 Glufs*3) | |
- C.512dupT (p.Gln172Thrfs*10) | |
- c.441 + 1G > A | |
- c.4065_4068del (p.Asn1355Lysfs*10) | |
- c.367C > T(p.Arg1203) | |
- c.3339 T > G, p.Tyr1113Ter pathogenic | |
- No Pathogenic BRCA1 or BRCA2 Mutation detected in tumor. Additional findings of BRCA2: c.353G > T (p.Arg118Leu) variant of uncertain significance | |
- c.6385G > T(pathogenic) p.Glu2129Ter | |
- Positive for a deleterious BRCA2 mutation in tumor c.7618-2A > G | |
- BRCA2 c.6815G > A p. (Arg2272Lys), variant may or may not modify protein function | |
- BRCA2 C.3201 del (p.Val1068 Tyrfs*9) gBRCA2 c.5290_5291delTC (p.Ser1764Lysfs*3) c.9019 > T(p.Arg3007*) |