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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