Table 1 Genetic results.

From: Re-evaluating the genotypes of patients with adenomatous polyposis of unknown etiology: a nationwide study

Gene

DNA

Protein

ACMG criteria used

Variant class

Remarks

APC NM_000038.6 and NM_001127511.2

 

c.(?_-220)_(165 + 1_166-1)del

p.(?)

PS4; PP1; PM2_Supporting

LP

Deletion of promoter 1B (NM_001354897.2)

 

c.(220 + 1_221-1)_(8532_?)del

 

PVS1; PM2_Supporting

LP

Deletion of exon 4–16 mosaicism in blood

 

c.(422 + 1_423-1)_(834 + 1_835-1)dup

 

PVS1; PM2_Supporting

LP

Duplication involving exon 5-8

 

c.694 C > T

p.(Arg232Ter)

PVS1; PM2_supporting; PS4

P

 
 

c.3927_3931del

p.(Glu1309Aspfs*4)

PVS1; PS4_VeryStrong; PM6_VeryStrong (reviewed by expert panel); ClinVar Accession: SCV003836601.1

P

 
 

c.4108 A > T

p.(Lys1370Ter)

PVS1; PM2_supporting

LP

 
 

c.4348 C > T

p.(Arg1450Ter)

PVS1; PM2_Supporting

LP

Variant detected in three polyps (mosaicism), not in blood

 

c.5826_5829del

p.(Asp1942Glufs*27)

PVS1; PM2_Supporting; PP1; PS4

P

 
 

Insertion of retrotransposon in intron 12*

p.(?)

 

LP

 
 

Inversion involving exon 1B*

p.(?)

 

LP

 
 

Insertion of retrotransposon in exon 16*

p.(?)

 

LP

 

MUTYH NM_001128425.2

 

c.734 G > A,

p.(Arg245His)

PS3; PS4; PP3

P

Homozygous

 

c.1187 G > A

p.(Gly396Asp)

PS3; PS4; PP3 PM1

P

Homozygous

 

c.1437_1439del

p.(Glu480del)

PS3; PS4; PM1

P

Homozygous

NTHL1 NM_002528.6

 

c.268 C > T

p.(Gln90Ter)

PVS1; PS4

P

Homozygous

POLE NM_006231.4

 

c.1270 C > G

p.(Leu424Val)

PS4; PM1; PP1; PP3

P

Heterozygous

  1. P Pathogenic, LP Likely pathogenic;
  2. *Detected with whole genome sequencing.
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