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Table 3 RECQL variants identified by Hi-Plex targeted-sequencing, in 427 women affected with breast or ovarian cancer in South-West Poland and West Ukraine

From: FANCM and RECQL genetic variants and breast cancer susceptibility: relevance to South Poland and West Ukraine

  HGVS_ca HGVS_pa dbSNPb ExACc Polyphen-2d CADDe # Carriers
Missense substitutions c.156 T > G p.Asp52Glu . 0.00002 0.001,B 5.347 1
  c.386G > A p.Cys129Tyr rs187203579 0.00009 0.914,D 22.5 1
  c.1483G > C p.Asp495His rs6499 0.00520 0.05, B 16.05 4
  c.1743 T > A p.Asn581Lys . . 0.009,B 12.03 2
Synonymous substitutions c.87G > A p.Thr29Thr . 0.00005    1
c.393 T > C p.Asp131Asp   .    1
c.1536A > T p.Pro512Pro . 0.00005    1
c.1731 T > C p.Asn577Asn rs6500 0.08850    67
c.1899A > G p.Gln633Gln rs61754415 0.08832    65
  1. aVariant nomenclature based on transcript sequence (NM_002907.3), + 1 as A of ATG start codon, according to the Human Genome Variation Society (HGVS), HGVS_c for coding DNA and HGVS_p for protein variants
  2. bdbSNP 138
  3. cMinor Allele Frequency (MAF) in ExAC Non-Finnish European population [17]
  4. dPolyPhen-2 prediction: B, benign; D: damaging [15]
  5. eCADD phred-scaled score [16]
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