Gene: APC ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786201856
rs786201856
APC
0.730 GeneticVariation BEFREE Apart from the two previously reported mutation hotspots c.3927_3931delAAAGA (20.47%) and c.3183_3187delACAAA (7.09%), c.847C>T/p.Arg283Ter variant occurred with a frequency of 3.15% (4 out of 127) in Chinese FAP patients. 26625971

2016
dbSNP: rs786201856
rs786201856
APC
0.730 GeneticVariation BEFREE An Arg283Stop mutation in exon 8 was found in 5 members in another family; 4 of them had FAP and all had small hypopigmented white lesions, probably a new type of CHRPE. 10755094

2000
dbSNP: rs786201856
rs786201856
APC
0.730 GeneticVariation BEFREE We conclude that an Arg283Ter mutation in the APC gene is causative of the FAP phenotype in this family, although there is considerable variation in the presentation of this disease among affected individuals. 12901799

2003
dbSNP: rs137854580
rs137854580
APC
0.720 GeneticVariation BEFREE Sequence analysis revealed that a patient with a high level of ASE who did not have a family history of CRC carried a nonsense mutation in APC (p.Arg216X). 21995949

2012
dbSNP: rs137854580
rs137854580
APC
0.720 GeneticVariation BEFREE A mutation in exon 6, Arg216Stop, was identified in one patient with FAP and CHRPE. 10755094

2000
dbSNP: rs62619935
rs62619935
APC
0.720 GeneticVariation BEFREE A mutation in exon 6, Arg216Stop, was identified in one patient with FAP and CHRPE. 10755094

2000
dbSNP: rs62619935
rs62619935
APC
0.720 GeneticVariation BEFREE Sequence analysis revealed that a patient with a high level of ASE who did not have a family history of CRC carried a nonsense mutation in APC (p.Arg216X). 21995949

2012
dbSNP: rs72541816
rs72541816
APC
0.720 GeneticVariation BEFREE One previously described as a causative germline mutation (S2621C), associated with a 1-bp insertion (4684insA) on the opposite allele, did not segregate with the FAP phenotype in the family and was therefore considered as being non-pathogenic. 9341879

1997
dbSNP: rs72541816
rs72541816
APC
0.720 GeneticVariation UNIPROT

dbSNP: rs72541816
rs72541816
APC
0.720 GeneticVariation BEFREE However, special attention must be given to the missense mutations Asp1822Val and Ser2621Cys since their segregation with the FAP phenotype is questionable. 11668620

2001
dbSNP: rs121913224
rs121913224
APC
0.710 GeneticVariation BEFREE Genetic testing using massively parallel sequencing identified a 5-bp deletion (c.3927_3931delAAAGA) which causes frameshift (p.Glu1309Aspfs) and creates a premature stop codon, resulting in the replacement of the last 1535 amino acids of APC by five incorrect amino acids. 30340471

2018
dbSNP: rs137854575
rs137854575
APC
0.710 GeneticVariation BEFREE We identified a mutation in the APC gene that results in a truncated protein (Y935X) in the FAP proband, and subsequently in 12 FAP-affected members. 16292097

2005
dbSNP: rs397515734
rs397515734
APC
0.710 GeneticVariation BEFREE In them, 2 rare variants (c.694C>T in APC and c.1690A>G in MSH2) might be the putative causal mutations for familial adenomatous polyposis (FAP) since the rarity of the mutated allele in normal controls. c.694C>T was detected in only affected members and generated a premature stop codon in APC. 24735542

2014
dbSNP: rs1060503366
rs1060503366
APC
CT 0.700 GeneticVariation CLINVAR

dbSNP: rs1064794163
rs1064794163
APC
G 0.700 GeneticVariation CLINVAR The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 28349240

2017
dbSNP: rs1064794163
rs1064794163
APC
G 0.700 GeneticVariation CLINVAR Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients. 20223039

2005
dbSNP: rs1064794163
rs1064794163
APC
G 0.700 GeneticVariation CLINVAR Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC gene. 15459959

2004
dbSNP: rs137854567
rs137854567
APC
0.700 GeneticVariation UNIPROT Four novel mutations of the APC (adenomatous polyposis coli) gene in FAP patients. 7833931

1994
dbSNP: rs137854567
rs137854567
APC
0.700 GeneticVariation UNIPROT The molecular basis of Turcot's syndrome. 7661930

1995
dbSNP: rs137854567
rs137854567
APC
0.700 GeneticVariation UNIPROT Somatic mutation of the APC gene in gastric cancer: frequent mutations in very well differentiated adenocarcinoma and signet-ring cell carcinoma. 1338691

1992
dbSNP: rs137854567
rs137854567
APC
0.700 GeneticVariation UNIPROT Somatic mutations of the APC gene in colorectal tumors: mutation cluster region in the APC gene. 1338904

1992
dbSNP: rs137854567
rs137854567
APC
0.700 GeneticVariation UNIPROT Reduced expression of APC-1B but not APC-1A by the deletion of promoter 1B is responsible for familial adenomatous polyposis. 27217144

2016
dbSNP: rs137854567
rs137854567
APC
0.700 GeneticVariation UNIPROT Molecular analysis of the APC gene in 105 Dutch kindreds with familial adenomatous polyposis: 67 germline mutations identified by DGGE, PTT, and southern analysis. 8990002

1997
dbSNP: rs137854567
rs137854567
APC
0.700 GeneticVariation UNIPROT ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. 25645574

2015
dbSNP: rs137854567
rs137854567
APC
0.700 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015