Table 1 PALB2 variants identified in female participants of the kConFab resource.

Exonic variants

Nonsense

c.196C>T

p. Gln66*

rs180177083

1

0.1

Casadei et al. [38];

Wong et al. [39]

c.3113G>A

p.Trp1038*

rs180177132

7

0.9

Rahman et al. [8];

Casadei et al. [38];

Wong et al. [39]

Frameshift

c.1947_1948insA

p. Glu650fs*13

-

1

0.1

-

c.2982_2983insT

p. Ala995fs*16

rs180177127

1

0.1

Rahman et al. [8];

Bogdanova et al.[70]

Missense

c.90G>T

p.Lys30Asn

-

1

0.1

-

c.94C>G

p.Leu32Val

rs151316635

1

0.1

-

c.596A>G

p.Asp219Gly

rs45594034

1

0.1

Rahman et al. [8];

Hellebrand et al. [40];

Dansonka-Mieskowska et al.[61]

c.956C>A

p.Ser319Tyr

-

1

0.1

-

c.1010T>C

p.Leu337Ser

rs45494092

25

3.3

Rahman et al. [8];

Hellebrand et al. [40];

c.1475G>T

p.Gly492Val

-

1

0.1

-

c.1676A>G

p.Gln559Arg

rs152451

72

9.6

Rahman et al. [8];

Hellebrand et al. [40];

Garcia et al. [63];

Bogdanova et al.[70]

c.2014G>C

p.Glu672Gln

rs45532440

51

6.8

Rahman et al. [8];

Hellebrand et al. [40];

Garcia et al. [63];

Bogdanova et al.[70].;

Dansonka-Mieskowska et al.[61]

c.2590C>T

p.Pro864Ser

rs45568339

1

0.1

Rahman et al. [8];

Hellebrand et al. [40];

Garcia et al. [63];

c.2993G>A

p.Gly998glu

rs45551636

17

2.3

Rahman et al. [8];

Hellebrand et al. [40];

Garcia et al. [63];

Bogdanova et al.[70]

Synonymous

c.1431C>T

p.Thr477Thr

-

1

0.1

-

c.1470C>T

p.Pro490Pro

rs45612837

1

0.1

Rahman et al. [8];

Bogdanova et al.[70]

c.1572A>G

p.Ser524Ser

rs45472400

4

0.5

Rahman et al. [8];

Hellebrand et al. [40];

Garcia et al. [63];

Bogdanova et al.[70]

c.1935G>A

p.Glu645Glu

rs141707455

1

0.1

Hellebrand et al. [40];

c.2469C>A

p.Leu823Leu

-

1

0.1

-

c.2823C>A

p.Ile941Ile

-

1

0.1

-

c.3300T>G

p.Thr1100Thr

rs45516100

45

6

Rahman et al. [8];

Hellebrand et al. [40];

Erkko et al. [71];

Garcia et al. [63];

Bogdanova et al.[70]

Dansonka-Mieskowska et al.[61]

c.3321G>A

p.Leu1107Leu

-

1

0.1

-

Intronic

variants

c.-47G>A

-

rs8053188

17

2.3

Hellebrand et al. [40];

Garcia et al. [63];

c.212-58A>C

-

rs80291632

37

5

Garcia et al. [63];

Dansonka-Mieskowska et al.[61]

c.1684+41_42insTGA

-

-

2

0.3

-

c.2834+12C>T

-

-

1

0.1

-