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Table 3 Stability of the mutant allele

From: Increased chromosomal radiosensitivity in asymptomatic carriers of a heterozygous BRCA1 mutation

  

Fragment analysis

MiSeq (VAF)

 

Donor

RIND score

Ratio peak height (mutant/WT allele)

cDNA

cDNAp

gDNA

Evidence for NMD?

M01 c.1A > G

3

0.7 (0.6–0.8)

49 (42–55)

52 (51–52)

49 (49–49)

No

M02 c.1A > C

2

/

/

/

/

No

M03 c.212 + 3A > G

2

/

/

/

/

No

M04 c.1961del

0

0.4 (0.4–0.4)

29 (25–33)

47 (43–51)

47 (47–47)

Yes

M05 c.2359dup

3

0.6 (0.6–0.6)

28 (25–31)

42 (38–45)

48 (48–48)

Yes

M06 c.2359dup

2

0.5 (0.5–0.5)

24 (23–25)

44 (41–47)

50 (50–50)

Yes

M07 c.2359dup

0

0.4 (0.4–0.5)

29 (27–30)

48 (30–67)

57 (55–59)

Yes

M08 c.2359dup

4

/

/

/

/

Yes

M09 c.3331_3334del

1

0.4 (0.4–0.4)

25 (18–31)

44 (34–48)

49 (49–49)

Yes

M10 c.3481_3491del

2

0.4 (0.4–0.4)

23 (16–30)

42 (28–52)

39 (32–46)a

Yes

M11 c.3481_3491del

1

0.4 (0.3–0.5)

23 (16–32)

41 (23–54)

39 (34–44)a

Yes

M12 c.3481_3491del

2

0.4 (0.4–0.4)

26 (16–34)

39 (28–50)

42 (35–49)a

Yes

M13 c.3661G > T

1

0.5 (0.3–0.6)

29 (28–30)

50 (41–57)

50 (46–53)

Yes

M14 c.3661G > T

0

0.4 (0.3–0.4)

31 (29–32)

52 (52–52)

50 (50–50)

Yes

M15 c.3661G > T

0

/

/

/

/

Yes

M16 c.4327C > T

3

0.5 (0.5–0.6)

24 (21–27)

51 (45–56)

/

Yes

M17 c.4327C > T

3

0.6 (0.4–0.7)

26 (21–30)

48 (44–53)

50 (50–50)

Yes

M18 c.4931_4393delinsTT

0

0.4 (0.3–0.4)

30 (28–31)

37 (28–47)

52 (52–52)

Yes

  1. cDNA complementary DNA, cDNAp cDNA extracted in the presence of puromycin, gDNA genomic DNA, NMD nonsense mediated decay, RIND radiosensitivity indicator, VAF variant allele frequency, WT wild type
  2. aVAF <50 % for gDNA