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Table 3 List of variants of uncertain significance identified

From: Comprehensive analysis of DNA damage repair genes reveals pathogenic variants beyond BRCA and suggests the need for extensive genetic testing in pancreatic cancer

Gene Transcript

cDNA change

Protein change

Variant type

Consequence

Sex

Age at diagnosis

Personal history (age)

Familial history (cases)

BRCA2

NM_000059

c.9613_9614delinsCT

p.(Ala3205Leu)

delins

Missense

F

62

none

none

BRCA2

NM_000059

c.1705C > A

p.(Gln569Lys)

SNV

Missense

M

61

none

NA

BRCA2

NM_000059

c.476 T > C

p.(Val159Ala)

SNV

Missense

M

62

kidney (62)

lung (1), kidney (1), stomach (1), esophagus (1)

APC

NM_000038

c.1450G > C

p.(Glu484Gln)

SNV

Missense

M

63

none

breast (1), stomach (1), lung (1), brain (1)

APC

NM_000038

c.2870A > G

p.(Lys957Arg)

SNV

Missense

M

61

none

none

APC

NM_000038

c.2870A > G

p.(Lys957Arg)

SNV

Missense

F

64

breast (40), thyroid (53, 59)

colon (1), stomach (1)

ATM

NM_000051

c.5975A > C

p.(Lys1992Thr)

SNV

Missense

M

63

none

breast (1), stomach (1), lung (1), brain (1)

ATM

NM_000051

c.1464G > T

p.(Trp488Cys)

SNV

Missense

M

66

none

none

ATM

NM_000051

c.8734A > G

p.(Arg2912Gly)

SNV

Missense

M

58

none

none

ATM

NM_000051

c.8671 + 17A > G

p.(?)

SNV

Intronic

M

71

NA

NA

ATM

NM_000051

c.2376 + 16del

p.(?)

SNV

Intronic

M

71

NA

NA

BARD1

NM_000465

c.2251C > T

p.(Arg751Trp)

SNV

Missense

M

66

none

none

BARD1

NM_000465

c.2027A > G

p.(Tyr676Cys)

SNV

Missense

M

61

none

NA

BRIP1

NM_032043

c.845C > G

p.(Thr282Ser)

SNV

Missense

M

45

none

none

CHEK2

NM_007194

c.793_846del

p. (?)

CNVs

Large deletion

F

79

colon (68), breast (71)

breast (1)

CHEK2

NM_007194

c.500G > A

P. (Gly167Glu)

SNV

Missense

M

61

none

none

CHEK2

NM_007194

c.118A > G

p.(Ser40Gly)

SNV

Missense

F

75

none

NA

MSH6

NM_000179

c.1660C > T

p. (Arg554Cys)

SNV

Missense

F

62

none

none

MSH6

NM_000179

c.3515G > T

p. (Arg1172Ile)

SNV

Missense

F

67

breast (40, 47, 61)

NA

MUTYH

NM_001128425

c.1483C > T

p.(Arg495Cys)

SNV

Missense

M

60

prostate (49)

breast (1)

PALB2

NM_024675

c.109_211dup

p. (?)

CNVs

Large duplication

M

62

kidney (62)

lung (1), kidney (1), stomach (1), esophagus (1)

PALB2

NM_024675

c.2453 T > C

p.(Phe818Ser)

SNV

Missense

M

60

prostate (49)

breast (1)

PALB2

NM_024675

c. 3296C > T

p. Thr1099Met

SNV

Missense

M

58

none

pancreas (1), prostate (1)

  1. M Male, F Female, SNV Single Nucleotide Variation, CNVs Copy Number Variations, NA Not available