Table 2.
Patient No./ Sex/Ageb |
Family History | Nucleotide Change |
Genome Loc | Amino Acid Change |
Minor Allele Freq |
Species Conservation |
Exon |
In silico Pathogenicity Assessment Resultsc |
||
---|---|---|---|---|---|---|---|---|---|---|
Chompret Crit |
Classic LFS Crit |
PolyPhen-2 | SIFT | |||||||
1/M/38 | No | No | c.455C>T | g.7578475 | p.Pro152Leu | Undefined | Highly conserved | 5 | Probably damaging | Not tolerated |
2/M/37 | No | No | c.1136G>A | g.7572973 | p.Arg379His | Undefined | Moderately conserved | 11 | Benign | Tolerated |
3/M/33 | No | No | c.869G>A rs55819519 |
g.7577069 | p.Arg290His | 0.0003EA 0.0002AA |
Moderately conserved | 8 | Benign | Tolerated |
4/M/25 | No | No | c.847C>T rs149633775 |
g.7577091 | p.Arg283Cys | 0.0005EA 0.0002AA |
Moderately conserved | 8 | Benign | Not tolerated |
5/F/19 | No | No | c.850A>T | g.7577088 | p.Thr284Ser | Undefined | Moderately conserved | 8 | Possibly damaging | Tolerated |
6/F/35 | No | No | c.704A>G rs114340710 |
g.7577577 | p.Asn235Ser | 0.0001EA 0.0002AA |
Moderately conserved | 7 | Benign | Tolerated |
Abbreviations: AA, African American; crit, criteria; EA, European American; freq, frequency; LFS, Li-Fraumeni syndrome; loc, location.
None of the 6 TP53 probands carried a known germline variant of uncertain significance in MLH1, MSH2, MSH6, or PMS2; none carried a monoallelic MUTYH mutation.
Age in years at CRC diagnosis.
Interactive Biosoftware.