Table 1 Frequency of gene-specific variants of uncertain significance identified in hereditary breast cancer patients
Gene | Variant ID | Protein change | Frequency | Percentage frequency |
|---|---|---|---|---|
APC | c.1564 A > G (rs587781692) | p.Met522Val | 1 | 5.8% |
ATM | c.7502 A > G (rs531617441) | p.Asn2501Ser | 2 | 11.7% |
BRCA1 | c.3392 A > G (rs1555587813) | p.Asp1131Gly | 1 | 5.8% |
BRCA2 | c.784G > A (rs397507393) c.2488 A > G (rs574039421) c.6231G > C (rs541826447) c.521G > A (rs80358747) c.8417 C > T (rs587782785) | p.Ala262Thr p.Asn830Asp p.Lys2077Asn p.Arg174His p.Ser2806Leu | 5 | 29.4% |
BRIP1 | c.3103 C > T (rs45437094) | p.Arg1035Cys | 1 | 5.8% |
CDKN2A | c.377 A > G | p.Gln126Pro | 1 | 5.8% |
CHEK2 | c.60G > T (rs375507194) c.1501G > A (rs17883172) | p.Gln20His p.Glu544Lys | 2 | 11.7% |
FANCI | c.3179T > C (rs201376236) | p.Ile1060Thr | 1 | 5.8% |
MET | c.840G > T (rs1207381066) | p.Arg280Ser | 1 | 5.8% |
STK11 | c.355 A > G (rs545015076) | p.Asn119Asp | 1 | 5.8% |
NF2 | c.1522G > A (rs749326764) | p.Asp508Asn | 1 | 5.8% |