St. Jude Research

CEBPA Database

CEBPA Visualization

The CEBPA Database is a curated repository of germline CEBPA variants identified in patients through published literature. Our goal is to provide a comprehensive knowledge base for understanding germline CEBPA variants.

If you are interested in contributing variants, please contact wlodarskilab@stjude.org

CEBPA transcript version is NM_004364.3. Curated by Lili Kotmayer, MD, PhD and Majd Khiami, MD. Last updated: 07/29/2025.

Patient ID CEBPA mutation (cDNA) CEBPA mutation (Protein) Type of mutation Localization of germline CEBPA mutation Mutation origin Localization of somatic CEBPA mutation Type of somatic CEBPA mutation Year of reporting PMID Original patient ID Disease Gender (M/F) Age at first presentation Presenting diagnosis FAB classification Cytogenetics Chemoptherapy HSCT Outcome Other co-occurring somatic mutations
P001 c.212del p.Ala71fsX1 Frameshift N-terminal Germline No   2004 15575056 II-3 (Father) Family 1 M 10 years AML M1 Normal Prednisolone + mercaptopurine N Alive  
P002 c.212del p.Ala71fsX1 Frameshift N-terminal Germline c.1050_1085dup C-terminal 2004 15575056 III-1 (Son) Family 1 M 30 years AML with eosinophilia M2Eo Normal Standard chemotherapy (7+3 regimen) N Alive  
P003 c.212del p.Ala71fsX1 Frameshift N-terminal Germline Yes C-terminal 2004 15575056 III-5 (Daughter) Family 1 F 18 years AML with eosinophilia M2Eo Normal Standard chemotherapy (7+3 regimen) N Alive  
P004 c.291del p.Pro97FsX1 Frameshift N-terminal Germline No   2008 18768433 A-I-2 Pedigree A F 46 years AML M2 Monosomy 7 Standard chemotherapy N Death  
P005 c.291del p.Pro97FsX1 Frameshift N-terminal Germline c.1086insCAG C-terminal 2008 18768433 A-II-2 Pedigree A M 40 years AML M1 Normal Standard induction therapy Y (auto-HSCT) Alive  
P006 c.291del p.Pro97FsX1 Frameshift N-terminal Germline     2008 18768433 A-III-3 Pedigree A M 14 years Healthy carrier         Unknown  
P007 c.465_466insT p.Leu155fsX1 Frameshift N-terminal Germline c.1207G>C, c.1210A>C C-terminal 2008 18768433 B-I-2 Pedigree B M 42 years AML M1   Standard chemotherapy N Death  
P008 c.465_466insT p.Leu155fsX1 Frameshift N-terminal Germline c.1089insAAG C-terminal 2008 18768433 B-II-1 Pedigree B F 27 years AML M2 Normal Standard induction therapy Y (auto-HSCT) Alive  
P009 c.218del p.Phe73fsX1 Frameshift N-terminal Germline p.Lys302_Lys313dup C-terminal 2015 26162409 A.II.1 Pedigree A M 30 years AML M2 Normal Standard chemotherapy N Alive  
P010 c.218del p.Phe73fsX1 Frameshift N-terminal Germline p.Gln305_Lys313dup C-terminal 2015 26162409 A.II.5 Pedigree A F 18 years AML M2 Normal Standard chemotherapy N Alive  
P011 c.218del p.Phe73fsX1 Frameshift N-terminal Germline p.Lys313dup C-terminal 2015 26162409 A.III.2 Pedigree A M 2 years AML M1 Normal Pediatric chemotherapy protocol N Alive  
P012 c.218_219insC p.Phe73fsX2 Frameshift N-terminal Germline Multiple somatic mutations   2015 26162409 B.I.1 Pedigree B F 23 years AML M1 Normal Standard chemotherapy Y (auto-HSCT) Alive  
P013 c.218_219insC p.Phe73fsX2 Frameshift N-terminal Germline Multiple somatic mutations   2015 26162409 B.II.2 Pedigree B M 5 years AML M1 Normal Pediatric chemotherapy protocol N Alive  
P014 c.218_219insC p.Phe73fsX2 Frameshift N-terminal Germline     2015 26162409 C.II.1 Pedigree C F 32 years AML M1 Normal Standard chemotherapy N Death  
P015 c.218_219insC p.Phe73fsX2 Frameshift N-terminal Germline     2015 26162409 C.II.2 Pedigree C F 3 years AML M2 Normal Pediatric chemotherapy protocol N Unknown  
P016 c.218_219insC p.Phe73fsX2 Frameshift N-terminal Germline p.Lys300_Lys313dup C-terminal 2015 26162409 C.III.1 Pedigree C F 18 years AML M4   Standard chemotherapy N Alive  
P017 c.218_219insC p.Phe73fsX2 Frameshift N-terminal Germline     2015 26162409 C.II.3 Pedigree C F 41 years Healthy carrier         Unknown  
P018 c.297_315del p.Gly99fsX6 Frameshift N-terminal Germline p.Lys313dup, p.Lys304_Ala353del C-terminal 2015 26162409 D.II.1 Pedigree D F 1.75 years AML M1 Normal Pediatric chemotherapy protocol N Unknown  
P019 c.297_315del p.Gly99fsX6 Frameshift N-terminal Germline p.Lys313dup C-terminal 2015 26162409 D.II.2 Pedigree D F 15 years AML M1 Trisomy 12 Pediatric chemotherapy protocol N Alive  
P020 c.351_352insCTAC p.Gly117fsX2 Frameshift N-terminal Germline Sequential mutations acquired over time 2015 26162409 E.I.1 Pedigree E M 39 years AML M2Eo Normal Standard chemotherapy N Alive  
P021 c.351_352insCTAC p.Gly117fsX2 Frameshift N-terminal Germline p.Lys313dup C-terminal 2015 26162409 E.II.1 Pedigree E M 26 years AML M2Eo   Standard chemotherapy N Death  
P022 c.351_352insCTAC p.Gly117fsX2 Frameshift N-terminal Germline     2015 26162409 E.II.2 Pedigree E M 24 years Healthy carrier         Unknown  
P023 c.442G>T p.Glu148X Nonsense N-terminal Germline     2015 26162409 F.III.2 Pedigree F F 28 years AML M2 Normal Standard chemotherapy N Unknown  
P024 c.442G>T p.Glu148X Nonsense N-terminal Germline c.1075_1081delinsCTGGAGGCCA, c.1070_1105dup C-terminal 2015 26162409 F.IV.2 Pedigree F M 25 years AML M4 del6q Standard chemotherapy N Alive  
P025 c.442G>T p.Glu148X Nonsense N-terminal Germline c.1075_1077dup C-terminal 2015 26162409 F.IV.4 Pedigree F M 24 years AML M1 Normal Standard chemotherapy N Alive  
P026 c.442G>T p.Glu148X Nonsense N-terminal Germline     2015 26162409 F.V.1 Pedigree F M 4 years AML M1 Normal Pediatric chemotherapy protocol N Death  
P027 c.308del p.Gly103fsX1 Frameshift N-terminal Germline p.Lys313dup C-terminal 2015 26162409 G.II.2 Pedigree G F 28 years AML M2 Normal Standard chemotherapy N Alive  
P028 c.308del p.Gly103fsX1 Frameshift N-terminal Germline p.Lys309_Gln312dup C-terminal 2015 26162409 G.III.1 Pedigree G F 2 years AML M1 Normal Pediatric chemotherapy protocol N Alive  
P029 c.339del p.Ala113fsX1 Frameshift N-terminal Germline p.Lys326insThr310_X359 C-terminal 2015 26162409 H.III.2 Pedigree H F 25 years AML M1 Normal Standard chemotherapy N Alive  
P030 c.464_465insT p.Leu155fsX2 Frameshift N-terminal Germline     2015 26162409 I.I.2 Pedigree I F 46 years AML M2 Monosomy 7 Standard chemotherapy N Death  
P031 c.464_465insT p.Leu155fsX2 Frameshift N-terminal Germline p.Gln312dup C-terminal 2015 26162409 I.II.2 Pedigree I F 40 years AML M1 Normal Standard chemotherapy N Alive  
P032 c.464_465insT p.Leu155fsX2 Frameshift N-terminal Germline     2015 26162409 I.III.3 Pedigree I M 19 years Healthy carrier         Unknown  
P033 c.464_465insT p.Leu155fsX2 Frameshift N-terminal Germline p.Ala353Pro, p.Met354Leu C-terminal 2015 26162409 J.I.2 Pedigree J M 42 years AML M1 Monosomy 7 Standard chemotherapy N Death  
P034 c.464_465insT p.Leu155fsX2 Frameshift N-terminal Germline p.Lys313dup C-terminal 2015 26162409 J.II.1 Pedigree J F 27 years AML M2 Normal Standard chemotherapy N Alive  
P035 c.247C>T p.Gln83X Nonsense N-terminal Germline     2024 38442594 III-13 Family #13 M NA Carrier (liver cancer)         Death  
P036 c.247C>T p.Gln83X Nonsense N-terminal Germline c.928_930dup C-terminal 2024 38442594 III-23 Family #13 M 56 years AML M2 Normal Standard chemotherapy N Alive  
P037 c.247C>T p.Gln83X Nonsense N-terminal Germline c.928_930dup C-terminal 2024 38442594 IV-25 Family #13 F 20 years AML M2 Normal Standard chemotherapy N Alive  
P038 c.247C>T p.Gln83X Nonsense N-terminal Germline     2024 38442594 III-24 Family #13 M NA Healthy carrier   Normal     Alive IDH2
P039 c.317_318del p.Phe106fsX1 Frameshift N-terminal Germline c.907G>C C-terminal 2024 38442594 II-3 Family #14 M 7 years AML     Multiple protocols including venetoclax N Alive  
P040 c.317_318del p.Phe106fsX1 Frameshift N-terminal Germline     2024 38442594 III-1 Family #14 M 9 years AML M2   Standard pediatric chemotherapy Y Alive  
P041 c.198dupC p.Ala66fsX2 Frameshift N-terminal Germline     2022 35032366 Father Syrian Family M 37 years AML M5   Standard chemotherapy N Alive  
P042 c.198dupC p.Ala66fsX2 Frameshift N-terminal Germline     2022 35032366 Son 1 Syrian Family M 8 years AML M5   Pediatric chemotherapy protocol N Alive  
P043 c.198dupC p.Ala66fsX2 Frameshift N-terminal Germline     2022 35032366 Son 2 Syrian Family M 2.8 years AML M5   Pediatric chemotherapy protocol N Alive  
P044 c.198dupC p.Ala66fsX2 Frameshift N-terminal Germline     2022 35032366 Daughter Syrian Family F 2.5 years AML M5   Pediatric chemotherapy protocol N Alive  
P045 c.932A>C p.Gln311Pro Missense C-terminal Germline Multiple somatic mutations   2016 26721895 IV.1 NCI Large Family F 20 years AML         Death  
P046 c.932A>C p.Gln311Pro Missense C-terminal Germline Multiple somatic mutations   2016 26721895 IV.4 NCI Large Family F 11 years AML         Death  
P047 c.932A>C p.Gln311Pro Missense C-terminal Germline     2016 26721895 III.10 NCI Large Family M 80 years Carrier (MI)         Death  
P048 c.932A>C p.Gln311Pro Missense C-terminal Germline     2016 26721895 IV.5 NCI Large Family M 54 years Healthy carrier         Alive  
P049 c.932A>C p.Gln311Pro Missense C-terminal Germline     2016 26721895 IV.6 NCI Large Family M 54 years Healthy carrier         Alive  
P050 c.932A>C p.Gln311Pro Missense C-terminal Germline     2016 26721895 IV.11 NCI Large Family F 60 years Healthy carrier         Alive  
P051 c.932A>C p.Gln311Pro Missense C-terminal Germline     2016 26721895 V.1 NCI Large Family F 27 years Healthy carrier         Alive  
P052 c.932A>C p.Gln311Pro Missense C-terminal Germline     2016 26721895 V.2 NCI Large Family F 24 years AML         Alive  
P053 c.932A>C p.Gln311Pro Missense C-terminal Germline     2016 26721895 III.2 NCI Large Family F NA Carrier (CRC)         Death  
P054 c.932A>C p.Gln311Pro Missense C-terminal Germline     2016 26721895 III.5 NCI Large Family F 88 years Healthy carrier         Unknown  
P055 c.932A>C p.Gln311Pro Missense C-terminal Germline     2016 26721895 III.8 NCI Large Family M 58 years AML         Death  
P056 c.217_218insC p.Phe73fsX2 Frameshift N-terminal Germline c.1083_1085del C-terminal 2009 18946494 I:2 French Family F 23 years AML M1 Normal Standard chemotherapy   Alive  
P057 c.217_218insC p.Phe73fsX2 Frameshift N-terminal Germline c.1065_1066insGGG C-terminal 2009 18946494 II:2 French Family M 5 years AML M1 Normal Standard chemotherapy Y Alive  
P058 c.217_218insC p.Phe73fsX2 Frameshift N-terminal Germline     2009 15902292 III.1 UK Family NA 34 years AML         Unknown  
P059 c.217_218insC p.Phe73fsX2 Frameshift N-terminal Germline c.1071_1078delinsCTGGAGGCCA C-terminal 2009 15902292 IV.2 UK Family NA 25 years AML M4Eo       Unknown  
P060 c.217_218insC p.Phe73fsX2 Frameshift N-terminal Germline c.1071_1072ins3 C-terminal 2009 15902292 IV.4 UK Family NA 24 years AML M1       Unknown  
P061 c.217_218insC p.Phe73fsX2 Frameshift N-terminal Germline     2009 15902292 V.1 UK Family NA 4 years AML M1       Unknown  
P062 c.350_351insCTAC p.Gly117fsX3 Frameshift N-terminal Germline c.1063ins18bp, 1079ins3bp C-terminal 2010 19953636 I.1 Japanese Family NA 39 years AML M2 Normal     Unknown  
P063 c.350_351insCTAC p.Gly117fsX3 Frameshift N-terminal Germline c.1083ins3bp C-terminal 2006 19953636 II.1 Japanese Family NA 26 years AML M2Eo Normal     Unknown  
P064 c.147_165del p.Pro49fsX6 Frameshift N-terminal Germline c.937_939dup, c.911_1060del C-terminal 2013 23716546 Twin 1 Slovenian Twins NA 1.75 years AML M1 Normal Pediatric chemotherapy protocol N Unknown  
P065 c.147_165del p.Pro49fsX6 Frameshift N-terminal Germline c.937_939dup C-terminal 2013 23716546 Twin 2 Slovenian Twins NA 15 years AML M1 Normal Pediatric chemotherapy protocol N Unknown  
P066 c.338del p.Ala113fsX1 Frameshift N-terminal Germline c.1085insGAA C-terminal 2011 21455213 Mother German Family F 30 years ALL, AML M2 Normal Standard chemotherapy Y Death  
P067 c.338del p.Ala113fsX1 Frameshift N-terminal Germline c.1072_1083dup C-terminal 2011 21455213 Daughter German Family F 2 years AML M1   Standard chemotherapy Y Alive  
P068 NA p.Gly36AlafsX124 Frameshift N-terminal Germline p.Gln312dupGln C-terminal 2020 33445848 Ⅲ24 Chinese Family F 37 years AML     Standard chemotherapy Y Alive  
P069 NA p.Gly36AlafsX124 Frameshift N-terminal Germline p.Thr310_Gln311insArg C-terminal 2020 33445848 Ⅳ1 Chinese Family M 7 years AML     Standard chemotherapy Y Alive  
P070 NA p.Gly36AlafsX124 Frameshift N-terminal Germline No   2020 33445848 Ⅱ14 Chinese Family F 48 years AML     Standard chemotherapy N Alive  
P071 NA p.Gly36AlafsX124 Frameshift N-terminal Germline     2020 33445848 Ⅲ22a Chinese Family F NA Healthy carrier         Unknown  
P072 NA p.Gly36AlafsX124 Frameshift N-terminal Germline No   2020 33445848 Ⅲ26 Chinese Family M 34 years AML     Standard chemotherapy Y Alive  
P073 c.442G>T p.Glu148X Nonsense N-terminal Germline c.68dup N-terminal 2017 29296967 A.II.1 US Family F 36 years AML   Normal Standard chemotherapy N Alive TET2, KCNT2, IKBKE, KDR, KMT2C, PDZRN4
P074 c.442G>T p.Glu148X Nonsense N-terminal Germline     2017 29296967 A.I.1 US Family F NA Healthy carrier         Unknown  
P075 c.442G>T p.Glu148X Nonsense N-terminal Germline     2017 29296967 A.II.3 US Family F NA Healthy carrier         Unknown  
P076 c.442G>T p.Glu148X Nonsense N-terminal Germline c.175G>T N-terminal 2021 33345654 Patient US Family F 29 years AML   Normal Standard chemotherapy Y Death  
P077 c.442G>T p.Glu148X Nonsense N-terminal Germline     2021 33345654 Patient US Family M 37 years Healthy carrier         Unknown  
P078 c.442G>T p.Glu148X Nonsense N-terminal Germline     2021 33345654 Patient US Family M 59 years Healthy carrier         Unknown  
P079 c.354_355dup p.Ala118fsX2 Frameshift N-terminal Germline Multiple somatic mutations   2024 39278810 IV-2 (Index case) Brazilian Family NA Pediatric AML     GELMAI protocol N Alive  
P080 c.590_591insACCCGC p.197_198insProProAla In-frame insertion N-terminal Germline     2021 34641967 Patient 1 Polish Family 1 NA 20 years AML     Standard chemotherapy   Unknown  
P081 c.590_591insACCCGC p.197_198insProProAla In-frame insertion N-terminal Germline     2021 34641967 Patient 2 Polish Family 1 NA 47 years AML     Standard chemotherapy   Unknown  
P082 c.590_591insACCCGC p.197_198insProProAla In-frame insertion N-terminal Germline     2021 34641967 Patient 3 Polish Family 1 NA 49 years AML     Standard chemotherapy   Unknown  
P083 c.590_591insACCCGC p.197_198insProProAla In-frame insertion N-terminal Germline     2021 34641967 Patient 4 Polish Family 1 NA 51 years AML     Standard chemotherapy   Unknown  
P084 c.337_344del p.Ala113fsX3 Frameshift N-terminal Germline     2021 34641967 Patient 5 Polish Family 2 NA 37 years AML     Standard chemotherapy   Unknown  
P085 c.68del p.Pro23fsX1 Frameshift N-terminal Germline     2019 30563700 Case 1 Korean Family 1 F 35 years AML     Standard chemotherapy N Death WT1, PTPN11
P086 c.994_998dup p.Leu331fsX2 In-frame insertion C-terminal Germline     2019 30563700 Case 2 Korean Family 2 F 17 years AML     Standard chemotherapy Y Alive NPM1, TET2, FLT3-ITD
P087 c.198dup p.Ala66fsX2 Frameshift N-terminal Germline c.934_936dup C-terminal 2019 30563700 Case 3 Korean Family 3 F 14 years AML     Standard chemotherapy N Alive  
P088 c.971T>G p.Leu324Arg Missense C-terminal Germline c.97_112del N-terminal 2019 30563700 Case 4 Korean Family 4 F 11 years AML     Standard chemotherapy Y Alive WT1, GATA2, KIT, FLT3-ITD
P089 c.531_555del p.Gly177fsX8 Frameshift N-terminal Germline     2021 34733449 proband II-4 Uruguayan Family M 46 years AML     Standard chemotherapy (7+3 regimen) N Alive  
P090 c.531_555del p.Gly177fsX8 Frameshift N-terminal Germline     2021 34733449 sibling II-3 Uruguayan Family M NA Healthy carrier         Unknown  
P091 c.531_555del p.Gly177fsX8 Frameshift N-terminal Germline     2021 34733449 sibling II-5 Uruguayan Family M NA Healthy carrier         Unknown  
P092 c.903C>A p.Asp301Glu Missense C-terminal Germline     2024 39011240 Patient Case study F 28 years Neutropenia   Normal None   Alive  
P093 c.68del p.Pro23fsX1 Frameshift N-terminal Germline c.937_939dupAAG C-terminal 2010 20456351 III-45 Family M 50 years AML     Standard chemotherapy N Death  
P094 c.1073del p.Ala358fsX1 Frameshift C-terminal Germline p.Lys313dup C-terminal 2012 22066712 Patient Case study F 60 years AML   Normal Standard chemotherapy Y Alive  
P095 c.932A>C p.Gln311Pro Missense C-terminal Germline c.233_234dup, c.555_593del (only at Dx), c.541del (only at Dx) N-terminal 2023 36879149 III.1 Caucasian family M 40 years AML   Normal Standard chemotherapy (7+3 regimen) Y Alive TET2
P096 c.932A>C p.Gln311Pro Missense C-terminal Germline     2023 36879149 III.2 Caucasian family F 40 years Healthy carrier         Unknown  
P097 c.932A>C p.Gln311Pro Missense C-terminal Germline     2023 36879149 II.4 Caucasian family F 70 years Healthy carrier         Unknown  
P098 c.985_988dup p.Val328fsX2 Frameshift C-terminal Germline c.300_309del N-terminal 2020 32098966 IV.1 FML007 F NA MDS/AML         Unknown  
P099 c.985_988dup p.Val328fsX2 Frameshift C-terminal Germline     2020 32098966 III.2 FML007 F NA Healthy carrier         Unknown  
P100 c.985_988dup p.Val328fsX2 Frameshift C-terminal Germline     2020 32098966 II.3 FML007 M NA Healthy carrier         Unknown  
P101 c.985_988dup p.Val328fsX2 Frameshift C-terminal Germline     2020 32098966 II.2 FML007 M NA Healthy carrier         Unknown  
P102 c.161del, c.493dup p.Gly54fsX1, p.Pro164fsX1 Frameshift N-terminal Germline     2025 39800668 III.1 Family F 55 years MM, tAML   Normal   N Death  
P103 c.161del, c.493dup p.Gly54fsX1, p.Pro164fsX1 Frameshift N-terminal Germline     2025 39800668 III.3 Family F NA Healthy carrier         Unknown  

Abbreviations
ALL: acute lymphoblastic leukemia, AML: acute myeloid leukemia, CRC: colorectal carcinoma, FAB: French-American-British classification system, GELMAI protocol:; Brazilian Childhood Acute Myeloid Leukemia Study Group treatment protocol, HSCT: hematopoietic stem cell transplantation, MI: myocardial infarction, MDS: myelodysplastic syndrome, MM: multiple myeloma, tAML: therapy-related AML