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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
  1. *Het, heterozygous; Hom, homozygous
  2. †Build 133; NA, not applicable