Table 4 Variants of uncertain significance.
Pat‐ ient ID | Race | BRCA1 or 2 | Variant | Classification |
---|---|---|---|---|
1 | White | BRCA2 | K3326X | PROB_POLY |
2 | White | BRCA2 | C197C and K3326X | PROB_POLY |
3 | White | BRCA2 | Y42C and I505T | UNLIKELY |
4 | White | BRCA2 | V2728I | UNLIKELY |
5 | White | BRCA1 | R1347G | PROB_POLY |
6 | White | BRCA2 | P655R | UNCERTAIN |
7 | White | BRCA2 | A2951T | PROB_POLY |
8 | White | BRCA1 | R1203Q | UNCERTAIN |
9 | White | BRCA2 | K3392T | PROB_POLY |
10 | White | BRCA2 | M1137T and S2247G | UNLIKELY |
11 | White | BRCA1 | R1347G | PROB_POLY |
12 | White | BRCA1 | Q804H | UNCERTAIN |
13 | AA | BRCA2 | A2466V | PROB_POLY |
14 | White | BRCA2 | K3326X | UNLIKELY |
15 | AA | BRCA2 | Q2384K V3079I | UNCERTAIN |
16 | AA | BRCA2 | D1420Y | UNLIKELY |
17 | White | BRCA2 | A1170V | UNCERTAIN |
18 | AA | BRCA2 | A248T | UNCERTAIN |
19 | White | BRCA1 | R1347G | PROB_POLY |
20 | White | BRCA1 | R496H | PROB_POLY |
21 | White | BRCA1 | R1347G | PROB_POLY |
22 | White | BRCA2 | G1529R | UNCERTAIN |
23 | AA | BRCA2 | A2446V | UNLIKELY |
24 | White | BRCA1 | Q1452G | UNCERTAIN |
25 | AA | BRCA1 | T779Ala | UNCERTAIN |
26 | AA | BRCA2 | I1364L and H2116R | UNLIKELY |
27 | AA | BRCA1 | T37R | UNCERTAIN |
28 | AA | BRCA2 | Q713L | UNLIKELY |
29 | AA | BRCA2 | D935N | UNCERTAIN |
30 | AA | BRCA2 | G3212R and Q713L | UNLIKELY |
31 | AA | BRCA2 | Lys1765Asn | UNLIKELY |
32 | AA | BRCA2 | Q2384K and V30791 | UNLIKELY |
33 | AA | BRCA1 | T790A | UNCERTAIN |
34 | White | BRCA2 | IVS20‐16C>G | UNCERTAIN |
35 | White | BRCA2 | L1356L | PROB_POLY |
AA, African American; PROB_POLY, based on available data, these variants are likely to be polymorphisms; UNLIKELY, based on available data, these variants are unlikely to be associated with disease risk (see Discussion); UNCERTAIN, based on available data, the significance of these variants remains uncertain.