Variant [22] | Number of families | Co-segregation (present study)a | Polarity change | Conserved mammals/other [21]b | Grantham score [19] | Times reported (Breast Cancer Information Core [1]) | Co-segregation (literature) | Co-occurrence (literature) | Classification (literature) | Referencec |
---|---|---|---|---|---|---|---|---|---|---|
BRCA1 | ||||||||||
p.L246V | 2 | ND | No | No/No | 32 | 79 | No | Yes (several) | Neutral | |
p.S1655F | 2 | 6/6 (n = 2) | Yes | Yes/Yes | 155 | 3 | Not done | Not done | Deleterious | |
p.R1699W | 9 | 8/8 (n = 4) | Yes | Yes/Yes | 101 | 13 | Not done | No | Deleterious | |
p.R1699Q | 5 | 1/2 (n = 2)d | Yes | Yes/Yes | 43 | 11 | Yes | No | Deleterious, uncertain, low/moderate | |
Total | 18 | |||||||||
BRCA2 | ||||||||||
p.Y42C | 3 | ND | N | No/No | 194 | 14 | No | Yes | Neutral | |
p.E462G | 8 | 2/5 (n = 5) | Yes | Yes/No | 98 | 35 | No | Yes (Y3097X) | Neutral | |
p.Y2660D | 9 | 8/8 (n = 5) | Yes | Yes/Yes | 160 | 2 | Not done | Not done | None | |
p.R2784W | 1 | ND | Yes | Yes/Yes | 101 | 5 | Not done | Not done | Uncertain | [33] |
p.R2784Q | 4 | 1/2 (n = 2)e | Yes | Yes/Yes | 43 | 4 | Not done | Not done | None | |
p.R2888C | 5 | 1/1 (n = 1) | Yes | No/Yes | 180 | 4 | No | Yes | Neutral | [14] |
p.R3052W | 10 | 1/1 (n = 1) | Yes | Yes/Yes | 101 | 8 | Not done | Not done | Deleterious | [33] |
p.R3052Q | 1 | 0/1 (n = 1) | Yes | Yes/Yes | 43 | 3 | Not done | Yes | Neutral | [14] |
Total | 41 |