Table 2 BRCA2 germline variants identified in Pakistani pancreatic cancer patients

Exon 11

c.2835delA (p.Asp946Ilefs*14)

rs80359356

Frameshift

1 (0.67)

0

0.333

–

ClinVar, LOVD

Exon 12

c.6886A > C (p.Ile2296Leu)

rs576279166

Missense

1 (0.67)

0

0.333

0.144

ClinVar, LOVD

Exon 17

c.7948G > C (p.Glu2650Gln)

–

Missense

1 (0.67)

0

0.333

–

Novel

Exon 27

c.9976A > T (p.Lys3326Ter)

rs11571833

Nonsense

2 (1.33)

0

0.667

0.693

ClinVar, LOVD

Exon 3

c.198A > G (p.Gln66Gln)

rs28897700

Silent

1 (0.67)

–

0.333

0.777

ClinVar, LOVD

Exon 10

c.865A > C (p.Asn289His)

rs766173

Missense

1 (0.67)

–

0.333

11.56

ClinVar, LOVD

Exon 10

c.1166C > A (p.Pro389Gln)

rs397507263

Missense

1 (0.67)

–

0.333

0.317

ClinVar, LOVD

Exon 10

c.1365A > G (p.Ser455Ser)

rs1801439

Silent

1 (0.67)

–

0.333

11.37

ClinVar, LOVD

Exon 11

c.2229 T > C (p.His743His)

rs1801499

Silent

1 (0.67)

–

0.333

11.42

ClinVar, LOVD

Exon 11

c.2783 T > A (p.Val928Asp)

–

Missense

1 (0.67)

–

0.333

–

Novel

Exon 11

c.2919G > A (p.Ser973Ser)

rs45525041

Silent

1 (0.67)

–

0.333

0.159

ClinVar, LOVD

Exon 11

c.2971A > G (p.Asn991Asp)

rs1799944

Missense

2 (1.33)

–

0.667

11.41

ClinVar, LOVD

Exon 11

c.3396A > G (p.Lys1132Lys)

rs1801406

Silent

2 (1.33)

–

0.667

29.89

ClinVar, LOVD

Exon 11

c.3807 T > C (p.Val1269Val)

rs543304

Silent

1 (0.67)

–

0.333

10.12

ClinVar, LOVD

Exon 11

c.4271C > T (p.Ser1424Phe)

–

Missense

7 (4.67)

–

2.333

–

Novel

Exon 11

c.4258G > T (p.Asp1420Tyr)

rs28897727

Missense

3 (2.0)

–

1.0

0.846

ClinVar, LOVD

Exon 11

c.4928 T > C (p.Val1643Ala)

rs28897731

Missense

2 (1.33)

–

0.667

0.010

ClinVar, LOVD

Exon 11

c.5312G > A (p.Gly1771Asp)

rs80358755

Missense

1 (0.67)

–

0.333

0.016

ClinVar, LOVD

Exon 11

c.5744C > T (p.Thr1915Met)

rs4987117

Missense

4 (2.67)

–

1.333

–

ClinVar, LOVD

Exon 11

c.5986G > A (p.Ala1996Thr)

rs80358833

Missense

1 (0.67)

–

0.333

0.372

ClinVar, LOVD

Exon 12

c.6935A > T (p.Asp2312Val)

rs80358916

Missense

1 (0.67)

–

0.333

0.189

ClinVar, LOVD

Exon 14

c.7242A > G (p.Ser2414Ser)

rs1799955

Silent

50 (33.3)

–

16.66

21.99

ClinVar, LOVD

Exon 14

c.7312G > T (p.Asp2438Tyr)

–

Missense

1 (0.67)

–

0.333

–

Novel

Exon 15

c.7469 T > C (p.Ile2490Thr)

rs11571707

Missense

1 (0.67)

–

0.333

0.1699

ClinVar, LOVD

Exon 17

c.7906 T > C (p.Cys2636Arg)

–

Missense

1 (0.67)

–

0.333

–

Novel

Exon 17

c.7971A > G (p.Lys2657Lys)

–

Silent

1 (0.67)

–

0.333

–

Novel

Exon 19

c.8421G > A (p.Ser2807Ser)

rs371278843

Silent

1 (0.67)

–

0.333

0.2711

ClinVar, LOVD

Exon 22

c.8851G > A (p.Ala2951Thr)

rs11571769

Missense

3 (2.0)

–

1.0

1.417

ClinVar, LOVD

Exon 27

c.10234A > G (p.Ile3412Val)

rs1801426

Missense

2 (1.33)

–

0.667

0.219

ClinVar, LOVD

3′ UTR

c.1–26G > A

rs1799943

5′ UTR

1 (0.67)

–

0.333

28.47

ClinVar, LOVD

Intron 4

c.653 + 67A > C

rs11571610

Intronic

1 (0.67)

–

0.333

0

ClinVar

Intron 10

c.1910-21A > T

–

Intronic

1 (0.67)

–

0.333

–

Novel

Intron 10

c.1910-74 T > C

rs2320236

Intronic

7 (4.67)

–

2.333

0

ClinVar

Intron 10

c.1910-51G > T

rs11571651

Intronic

29 (19.3)

–

9.667

11.28

ClinVar, LOVD

Intron 14

c.7435 + 53C > T

rs11147489

Intronic

8 (5.33)

–

2.667

0

ClinVar

Intron 21

c.8755-66 T > C

rs4942486

Intronic

2 (1.33)

–

0.667

0

ClinVar