Table 4.
Variants of Uncertain Significance (VUS) Mutations in Non-BRCA1 or BRCA2.
| Gene | Nucleotide change | Amino acid change | Variant type | Frequency |
|---|---|---|---|---|
| ATM | c.5892 G>C | p.Lys1964Asn | missense | 1 |
| ATM | c.37C>T | p.Arg13Cys | missense | 1 |
| ATM | c.8712G>C | p.Glu2904Asp | missense | 1 |
| ATM | c.4421 A>G | p.His1474Arg | missense | 1 |
| ATM | c.6733G>C | p.Glu2245Gln | missense | 1 |
| ATM | c.6975G>A | p.Ala2325= | synonymous | 1 |
| ATM | c.133C>T | p.Arg45Trp | missense | 2 |
| BARD1 | c.59C>T | p.Pro20Leu | missense | 1 |
| BARD1 | c.1108C>T | p.Arg370Cys | missense | 1 |
| BARD1 | c.195A<G | p.= | synonymous | 1 |
| BARD1 | c.1148T>A | p.Met383Lys | missense | 1 |
| BARD1 | c.247T>C | p.Cys83Arg | missense | 1 |
| BARD1 | c.1267A>G | p.Lys423Glu | missense | 1 |
| BARD1 | c.1793C>T | p.Thr598Ile | missense | 2 |
| BRIP1 | c.3178G>A | p.Val1060Ile | missense | 1 |
| BRIP1 | c.1846A>G | p.Thr616Ala | missense | 1 |
| BRIP1 | c.1198G>T | p.Asp400Tyr | missense | 3 |
| CDH1 | c.2369C>T | p.Thr790Ile | missense | 1 |
| CDH1 | c.1914G>C | p.Trp638Cys | missense | 1 |
| CHEK2 | c.1556G>T | p.Arg519Leu | missense | 1 |
| CHEK2 | c.246_260del | p.77_81DQEPE | microsatellite | 1 |
| CHEK2 | c.886G>T | p.Asp296Tyr | missense | 1 |
| CHEK2 | c.1336A>G | p.Asn446Asp | missense | 1 |
| CHEK2 | c.544C>A | p.Pro182Thr | missense | 1 |
| CHEK2 | c.1216 C>T | p.Arg406Cys | missense | 1 |
| CHEK2 | c.1570G>A | p.Glu524Lys | missense | 1 |
| CHEK2 | c.953G>A | p.Arg318His | missense | 1 |
| CHEK2 | c.592+3A>T | NA | Intron Variant | 5 |
| MLH1 | c.650G>A | p.Arg217His | missense | 1 |
| MLH1 | c.919G>A | p.Val307Met | missense | 1 |
| MSH2 | c.2141C>T | p.Ala714Val | missense | 1 |
| MSH2 | c.2T>C | p.Met1? | in-frame shift | 1 |
| MSH6 | c.3029C>G | p.Thr1010Ser | missense | 1 |
| MSH6 | c.1649C>G | p.Ser550Cys | missense | 1 |
| MSH6 | c.1774G>A | p.Val592Ile | missense | 1 |
| MSH6 | c.3104G>A | p.Arg1035Gln | missense | 2 |
| NBN | c.602A>G | p.Asp201Gly | missense | 1 |
| NBN | c.703-3T | NA | Intron Variant | 1 |
| NBN | c.353_355del | p.Ser118del | Deletion | 1 |
| NBN | c.1369A>G | p.Asn457Asp | missense | 1 |
| NF1 | c.1438A>G | p.Lys480Glu | missense | 1 |
| NF1 | c.1662G>T | p.Gln554His | missense | 1 |
| NF1 | c.5788C>G | p.Pro1930Ala | missense | 1 |
| NF1 | c.8431 C>T | p.Arg2811Cys | missense | 1 |
| PALB2 | c.3296C>G | p.Thr1099Arg | missense | 1 |
| PALB2 | c.995 T>C | p.Leu332His | missense | 1 |
| PALB2 | c.3320 T>C | p.Leu1107Pro | missense | 1 |
| PALB2 | c.1497 G>C | p.Leu499= | synonymous | 1 |
| PALB2 | c.1748T>G | p.Leu583Trp | missense | 1 |
| PALB2 | c.1123C>A | p.Leu375Ile | missense | 1 |
| PMS2 | c.655G>A | p.Gly219Arg | missense | 1 |
| PMS2 | c.2335G>A | p.Gly779Arg | missense | 1 |
| PMS2 | c.113C>T | p.Ala38Val | missense | 1 |
| PMS2 | c.2068A>C | p.Lys690Gln | missense | 2 |
| PMS2 | c.2012C>T | p.Thr671Met | missense | 1 |
| RAD51C | c.431T<C | p.Ile144Thr | missense | 2 |
Many patients had more than one variant, so total number of variants is more than the total number of patients.
p.= means the entire protein coding region was analyzed and no variant was found that changes (or is predicted to change) the protein sequence.