From: Clinical and genetic characterization of hereditary breast cancer in a Chinese population
NO. | Year | Gene | Function area | Nucleotide change | AA change | Hom/Het | 1000G_ALL | Variant | Annotation | ACMG evidence |
---|---|---|---|---|---|---|---|---|---|---|
SZ010 | 52 | ATM | CDS30 | c.4630_4633delTACT | p.Y1544*fsX1 | Het | 0 | frameshift deletion | likely pathogenic | PVS1, PM2 |
SZ011 | 57 | ATM | CDS30 | c.4630_4633delTACT | p.Y1544*fsX1 | Het | 0 | frameshift deletion | likely pathogenic | PVS1, PM2 |
SZ012 | 42 | BRIP1 | CDS9 | c.1400delT | p.Ile467AsnfsX9 | Het | 0 | frameshift deletion | likely pathogenic | PVS1, PM2 |
15B0028764 | 38 | ATM | Exon38 | c.5780delT | p.I1927IfsX10 | Het | 0 | frameshift deletion | likely pathogenic | PVS1, PM2 |
15B0029343 | 33 | BRCA2 | CDS21 | c.8946_8947delAG | p.K2982KfsX35 | Het | 0 | frameshift deletion | likely pathogenic | PVS1, PM2 |
15B0027543 | 28 | MUTYH | Intron10 | c.892-2A > G | – | Het | 0.0277 | splicing | likely pathogenic | PVS1, PP5 |
15B0029366 | 33 | BRCA2 | CDS10 | c.5344_5345insA | p.Q1782QfsX5 | Het | 0 | frameshift deletion | likely pathogenic | PVS1, PM2 |
15B0029289 | 30 | BARD1 | CDS9 | c.1822_1823insT | p.V608VfsX5 | Het | 0 | frameshift deletion | likely pathogenic | PVS1, PM2 |
15B0027981 | 61 | MUTYH | Intron10 | c.892-2A > G | – | Het | 0.0277 | splicing | likely pathogenic | PVS1, PP5 |
15B0027558 | 39 | MUTYH | CDS10 | c.757CÂ >Â T | p.Q253X | Het | 0 | nonsense mutation | pathogenic | PVS1,PM2, PP5 |
15B0027540 | 30 | MUTYH | Intron10 | c.892-2A > G | – | Het | 0.0277 | splicing | likely pathogenic | PVS1, PP5 |
15B0027538 | 35 | MUTYH | Intron10 | c.892-2A > G | – | Het | 0.0277 | splicing | likely pathogenic | PVS1, PP5 |
15B0027537 | 37 | MUTYH | Intron10 | c.892-2A > G | – | Het | 0.0277 | splicing | likely pathogenic | PVS1, PP5 |
15B0027970 | 18 | MUTYH | Intron12 | c.1144 + 2 T > C | – | Het | 0 | splicing | likely pathogenic | PVS1, PM2 |