Allele frequencies of ATM nucleotide changes in this and previous studies and designation of nucleotide changes
| Nucleotide change (amino acid substitution) . | Allele frequencies . | Type of nucleotide change . | Reported designation of nucleotide change . | Reference . | |
|---|---|---|---|---|---|
| This study . | Previous studies3-150 . | ||||
| IVS4-36insTG | 12/122 | — | Intronic | ||
| 162T>C | 2/122 | — | No substitution | ||
| 378T>A (Asp126Glu) | 2/120 | — | Substitution | ||
| IVS15-48T/C | 1/118 | — | Intronic | ||
| IVS16+78G/A | 4/118 | — | Intronic | ||
| 2572T>C (Phe858Leu) | 4/120 | 0.02 (C) | Substitution | Polymorphism carrier mutation | 27-29 |
| IVS24-10delT | 11/122 | 0.18 (delT) | Intronic | Polymorphism | 30 |
| IVS25-13insA | 50/120 | 0.37 (ins A) | Intronic | Polymorphism | 27 |
| 4258C>T (Leu1420Phe) | 1/118 | 0.02 | Substitution | Polymorphism carrier mutation | 28, 29, 31 |
| 4578C>T | 4/120 | — | No substitution | ||
| 5042T>C (Ile1681Thr) | 2/122 | — | Substitution | ||
| 5557G>A (Asp1853Asn) | 15/122 | 0.18(A) | Substitution | Polymorphism risk factor | 27, 32 |
| 5756delAA | 1/122 | NA | Truncating | ||
| IVS40+27G/A | 1/122 | — | Intronic | ||
| 6919C>T (Leu2307Phe) | 1/122 | — | Substitution | ||
| 7271insGT | 1/122 | NA | Truncating | ||
| 8266A>T (Lys2756Xaa) | 1/122 | NA | Truncating | Mutation | 33-35 |
| IVS63+60G/A | 36/122 | 0.37(A) | Intronic | Polymorphism | |
| Nucleotide change (amino acid substitution) . | Allele frequencies . | Type of nucleotide change . | Reported designation of nucleotide change . | Reference . | |
|---|---|---|---|---|---|
| This study . | Previous studies3-150 . | ||||
| IVS4-36insTG | 12/122 | — | Intronic | ||
| 162T>C | 2/122 | — | No substitution | ||
| 378T>A (Asp126Glu) | 2/120 | — | Substitution | ||
| IVS15-48T/C | 1/118 | — | Intronic | ||
| IVS16+78G/A | 4/118 | — | Intronic | ||
| 2572T>C (Phe858Leu) | 4/120 | 0.02 (C) | Substitution | Polymorphism carrier mutation | 27-29 |
| IVS24-10delT | 11/122 | 0.18 (delT) | Intronic | Polymorphism | 30 |
| IVS25-13insA | 50/120 | 0.37 (ins A) | Intronic | Polymorphism | 27 |
| 4258C>T (Leu1420Phe) | 1/118 | 0.02 | Substitution | Polymorphism carrier mutation | 28, 29, 31 |
| 4578C>T | 4/120 | — | No substitution | ||
| 5042T>C (Ile1681Thr) | 2/122 | — | Substitution | ||
| 5557G>A (Asp1853Asn) | 15/122 | 0.18(A) | Substitution | Polymorphism risk factor | 27, 32 |
| 5756delAA | 1/122 | NA | Truncating | ||
| IVS40+27G/A | 1/122 | — | Intronic | ||
| 6919C>T (Leu2307Phe) | 1/122 | — | Substitution | ||
| 7271insGT | 1/122 | NA | Truncating | ||
| 8266A>T (Lys2756Xaa) | 1/122 | NA | Truncating | Mutation | 33-35 |
| IVS63+60G/A | 36/122 | 0.37(A) | Intronic | Polymorphism | |
NA indicates not applicable.
Only provided for ATM polymorphisms/variants defined in the Virginia Mason database (http://www.vmresearch.org/atm.htm).