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Table 2 Pathological prediction and frequency in controls of selected SLX4 missense variants

From: Analysis of SLX4/FANCP in non-BRCA1/2-mutated breast cancer families

Exon Nucleotide
change
Amino acid
change
dbSNP† Pathological prediction Controls
tested (n)
Number of control
carriers (%)
     SIFT
(score < 0.05, deleterious)
PolyPhen-2
(false positive rate)
Condel
(weighted average
of scores)
Condel
prediction
  
2 c.248G > C p.Gly83Ala NA 0.14 0.15 0.15 Neutral 283 0
2 c.421G > T p.Gly141Trp NA 0.00 0.86 0.86 Deleterious 284 2 (0.7)
3 c.590T > C p.Val197Ala NA 0.48 0.01 0.00 Neutral 284 1 (0.4)
3 c.710G > A p.Arg237Gln NA 0.49 0.00 0.38 Neutral 284 4 (1.4)
8 c.1846G > A p.Val616Met NA 0.17 0.62 0.80 Deleterious 281 0
12 c.2469G > C p.Trp823Cys NA 0.01 1.00 0.97 Deleterious 282 0
12 c.3872C > T p.Thr1291Met NA 0.05 0.98 0.99 Deleterious 283 0
12 c.4261A > T p.Ille1421Phe NA 0.08 0.77 0.77 Deleterious 285 0
12 c.4409C > T p.Pro1470Leu rs72778139 0.02 0.99 0.96 Deleterious 283 0
14 c.5072A > G p.Asn1691Ser NA 0.56 0.00 0.01 Neutral 285 0
  1. †Build 133; NA, not applicable