Table 1

SLX4 variants found in non-BRCA1/2-mutated familial BrCa cases

Exon

Nucleotide change

Change

type

Amino acid change

Number of carriers*

dbSNP†


Het (%)

Hom (%)

Total


2

c.248G > C

Missense

p.Gly83Ala

1 (1.1)

0

94

NA

2

c.339T > C

Silent

p. =

1 (1.1)

0

94

NA

2

c.421G > T

Missense

p.Gly141Trp

1 (1.1)

0

94

NA

3

c.555C > T

Silent

p. =

9 (9.5)

0

94

rs74640850

3

c.610C > T

Missense

p.Arg204Cys

10 (10.6)

0

94

rs79842542

3

c.678C > T

Silent

p. =

3 (3.2)

0

94

rs28516461

3

c.590T > C

Missense

p.Val197Ala

1 (1.1)

0

94

NA

3

c.710G > A

Missense

p.Arg237Gln

2 (2.1)

0

94

NA

3

c.753G > A

Silent

p. =

24 (25.5)

2 (2.1)

94

rs8061528

4

c.761-32T > G

Intronic

p. =

2 (2.1)

0

94

NA

5

c.1152A > G

Silent

p. =

11 (11.7)

0

94

rs112511042

5

c.1153C > A

Missense

p.Pro385Thr

1 (1.1)

0

94

rs115694169

5

c.1156A > G

Missense

p.Met386Val

11 (11.7)

0

94

rs113490934

5

c.1163 + 10C > T

Intronic

p. =

11 (11.7)

0

94

rs80116508

6

c.1164-16T > C

Intronic

p. =

1 (1.1)

0

94

NA

6

c.1164-40C > A

Intronic

p. =

1 (1.1)

0

94

NA

6

c.1164-66T > A

Intronic

p. =

2 (2.1)

0

94

NA

6

c.1164-75C > G

Intronic

p. =

11 (11.7)

0

94

rs59622164

6

c.1366 + 11T > C

Intronic

p. =

12 (12.8)

0

94

rs76350200

7

c.1371T > G

Missense

p.Asn457Lys

10 (10.6)

0

94

rs74319927

7

c.1419C > T

Silent

p. =

1 (1.1)

0

94

NA

8

c.1846G > A

Missense

p.Val616Met

1 (1.1)

0

94

NA

9

c.2012T > C

Missense

p.Leu671Ser

11 (11.8)

0

93

rs77985244

9

c.2013 + 23G > A

Intronic

p. =

11 (11.7)

0

94

rs112226642

9

c.2013 + 137G > C

Intronic

p. =

11 (11.7)

0

94

rs80186343

10

c.2160 + 50C > T

Intronic

p. =

10 (10.6)

0

94

rs75762935

12

c.2346C > T

Silent

p. =

1 (1.1)

0

94

NA

12

c.2469G > C

Missense

p.Trp823Cys

1 (1.1)

0

94

NA

12

c.2854G > A

Missense

p.Ala952Thr

8 (8.5)

0

94

rs59939128

12

c.2855C > T

Missense

p.Ala952Val

8 (8.5)

0

94

rs78637028

12

c.3162G > A

Silent

p. =

1 (1.1)

0

94

rs76488917

12

c.3365C > T

Missense

p.Pro1122Leu

12 (12.8)

1 (1.1)

94

rs714181

12

c.3662C > T

Missense

p.Ala1221Val

10 (10.6)

0

94

rs3827530

12

c.3812C > T

Missense

p.Ser1271Phe

4 (4.2)

0

94

rs3810813

12

c.3872C > T

Missense

p.Thr1291Met

1 (1.1)

0

94

NA

12

c.4261A > T

Missense

p.Ile1421Phe

1 (1.1)

0

94

NA

12

c.4409C > T

Missense

p.Pro1470Leu

1 (1.1)

0

94

rs72778139

12

c.4500T > C

Silent

p. =

42 (44.7)

21 (22.3)

94

rs3810812

12

c.4530G > T

Silent

p. =

1 (1.1)

0

94

NA

13

c.4637-125C > T

Intronic

p. =

1 (1.1)

0

94

NA

13

c.4637-227C > T

Intronic

p. =

9 (9.6)

0

94

rs75693937

13

c.4739 + 10C > T

Intronic

p. =

1 (1.1)

0

94

NA

13

c.4739 + 24G > T

Intronic

p. =

20 (21.3)

2 (2.1)

94

rs12933120

14

c.5072A > G

Missense

p.Asn1691Ser

1 (1.1)

0

94

NA

15

c.5389C > T

Silent

p. =

1 (1.1)

0

93

NA

15

c.5501A > G

Missense

p.Asn1834Ser

2 (2.2)

0

93

rs111738042

15

c.*8A > G

Intronic

p. =

9 (9.7)

0

93

rs3751839

15

c.*102G > A

Intronic

p. =

1 (1.1)

0

93

NA

15

c.*113C > T

Intronic

p. =

8 (8.6)

0

93

rs76661336


*Het, heterozygous; Hom, homozygous

†Build 133; NA, not applicable

Fernández-Rodríguez et al. BMC Cancer 2012 12:84   doi:10.1186/1471-2407-12-84

Open Data