Table 1 SLX4 variants found in non-BRCA1/2-mutated familial BrCa cases
From: Analysis of SLX4/FANCP in non-BRCA1/2-mutated breast cancer families
Exon | Nucleotide change | Change type | Amino acid change | Number of carriers* | dbSNP† | ||
|---|---|---|---|---|---|---|---|
Het (%) | Hom (%) | Total | |||||
2 | c.248G > C | Missense | p.Gly83Ala | 1 (1.1) | 0 | 94 | NA |
2 | c.339T > C | Silent | p. = | 1 (1.1) | 0 | 94 | NA |
2 | c.421G > T | Missense | p.Gly141Trp | 1 (1.1) | 0 | 94 | NA |
3 | c.555C > T | Silent | p. = | 9 (9.5) | 0 | 94 | rs74640850 |
3 | c.610C > T | Missense | p.Arg204Cys | 10 (10.6) | 0 | 94 | rs79842542 |
3 | c.678C > T | Silent | p. = | 3 (3.2) | 0 | 94 | rs28516461 |
3 | c.590T > C | Missense | p.Val197Ala | 1 (1.1) | 0 | 94 | NA |
3 | c.710G > A | Missense | p.Arg237Gln | 2 (2.1) | 0 | 94 | NA |
3 | c.753G > A | Silent | p. = | 24 (25.5) | 2 (2.1) | 94 | rs8061528 |
4 | c.761-32T > G | Intronic | p. = | 2 (2.1) | 0 | 94 | NA |
5 | c.1152A > G | Silent | p. = | 11 (11.7) | 0 | 94 | rs112511042 |
5 | c.1153C > A | Missense | p.Pro385Thr | 1 (1.1) | 0 | 94 | rs115694169 |
5 | c.1156A > G | Missense | p.Met386Val | 11 (11.7) | 0 | 94 | rs113490934 |
5 | c.1163 + 10C > T | Intronic | p. = | 11 (11.7) | 0 | 94 | rs80116508 |
6 | c.1164-16T > C | Intronic | p. = | 1 (1.1) | 0 | 94 | NA |
6 | c.1164-40C > A | Intronic | p. = | 1 (1.1) | 0 | 94 | NA |
6 | c.1164-66T > A | Intronic | p. = | 2 (2.1) | 0 | 94 | NA |
6 | c.1164-75C > G | Intronic | p. = | 11 (11.7) | 0 | 94 | rs59622164 |
6 | c.1366 + 11T > C | Intronic | p. = | 12 (12.8) | 0 | 94 | rs76350200 |
7 | c.1371T > G | Missense | p.Asn457Lys | 10 (10.6) | 0 | 94 | rs74319927 |
7 | c.1419C > T | Silent | p. = | 1 (1.1) | 0 | 94 | NA |
8 | c.1846G > A | Missense | p.Val616Met | 1 (1.1) | 0 | 94 | NA |
9 | c.2012T > C | Missense | p.Leu671Ser | 11 (11.8) | 0 | 93 | rs77985244 |
9 | c.2013 + 23G > A | Intronic | p. = | 11 (11.7) | 0 | 94 | rs112226642 |
9 | c.2013 + 137G > C | Intronic | p. = | 11 (11.7) | 0 | 94 | rs80186343 |
10 | c.2160 + 50C > T | Intronic | p. = | 10 (10.6) | 0 | 94 | rs75762935 |
12 | c.2346C > T | Silent | p. = | 1 (1.1) | 0 | 94 | NA |
12 | c.2469G > C | Missense | p.Trp823Cys | 1 (1.1) | 0 | 94 | NA |
12 | c.2854G > A | Missense | p.Ala952Thr | 8 (8.5) | 0 | 94 | rs59939128 |
12 | c.2855C > T | Missense | p.Ala952Val | 8 (8.5) | 0 | 94 | rs78637028 |
12 | c.3162G > A | Silent | p. = | 1 (1.1) | 0 | 94 | rs76488917 |
12 | c.3365C > T | Missense | p.Pro1122Leu | 12 (12.8) | 1 (1.1) | 94 | rs714181 |
12 | c.3662C > T | Missense | p.Ala1221Val | 10 (10.6) | 0 | 94 | rs3827530 |
12 | c.3812C > T | Missense | p.Ser1271Phe | 4 (4.2) | 0 | 94 | rs3810813 |
12 | c.3872C > T | Missense | p.Thr1291Met | 1 (1.1) | 0 | 94 | NA |
12 | c.4261A > T | Missense | p.Ile1421Phe | 1 (1.1) | 0 | 94 | NA |
12 | c.4409C > T | Missense | p.Pro1470Leu | 1 (1.1) | 0 | 94 | rs72778139 |
12 | c.4500T > C | Silent | p. = | 42 (44.7) | 21 (22.3) | 94 | rs3810812 |
12 | c.4530G > T | Silent | p. = | 1 (1.1) | 0 | 94 | NA |
13 | c.4637-125C > T | Intronic | p. = | 1 (1.1) | 0 | 94 | NA |
13 | c.4637-227C > T | Intronic | p. = | 9 (9.6) | 0 | 94 | rs75693937 |
13 | c.4739 + 10C > T | Intronic | p. = | 1 (1.1) | 0 | 94 | NA |
13 | c.4739 + 24G > T | Intronic | p. = | 20 (21.3) | 2 (2.1) | 94 | rs12933120 |
14 | c.5072A > G | Missense | p.Asn1691Ser | 1 (1.1) | 0 | 94 | NA |
15 | c.5389C > T | Silent | p. = | 1 (1.1) | 0 | 93 | NA |
15 | c.5501A > G | Missense | p.Asn1834Ser | 2 (2.2) | 0 | 93 | rs111738042 |
15 | c.*8A > G | Intronic | p. = | 9 (9.7) | 0 | 93 | rs3751839 |
15 | c.*102G > A | Intronic | p. = | 1 (1.1) | 0 | 93 | NA |
15 | c.*113C > T | Intronic | p. = | 8 (8.6) | 0 | 93 | rs76661336 |