Skip to main content

Table 2 List of PSVs Position as Per Gene Report

From: Prevalence of BRCA1 and BRCA2 pathogenic sequence variants in ovarian cancer patients in the Gulf region: the PREDICT study

- 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*)