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Table 2 Detection of single nucleotide variations and short indels in the BRCA1 and BRCA2 genes in familial breast cancer cases

From: Characterization of familial breast cancer in Saudi Arabia

Gene dbSNP137 Genomic Position AA Change Nucleotide change SIFT Prediction MAF Occurrence
BRCA1 rs799917 Chr17:41244936 p.Pro871Leu c.2894G>A Tolerated 0.483 4/7
  rs4986852 Chr17:41244429 p.Ser1040Asn c.3351 G>A Tolerated 0.012 1/7
  rs1799966 Chr17:41223094 p.Ser1613Gly c.5096A>G Damaging 0.327 3/7
  rs16941 Chr17:41244435 p.Glu1038Gly c.3345A>G Damaging 0.303 3/7
  rs1799950 Chr17:41246481 p.Gln356Arg c.1299A>G Damaging 0.028 1/7
  rs16942 Chr17:41244000 p.Lys1183Arg c.3780A>G Tolerated 0.324 2/7
BRCA2 rs144848 Chr13:32906729 p.Asn372His c.1341A>C Tolerated 0.240 4/7
  rs766173 Chr13:32906480 p.Asn289His c.1092A>C Damaging 0.058 1/7
  rs169547 Chr13:32929387 p.Val2466Ala c.7397C>T Tolerated 0.022 5/7
  rs80358972 Chr13:32930609 p.Arg2494Stop c.7707C>T NA NA 1/7
  rs4987117 Chr13:32914236 p.Thr1915Met c.5971C>T Tolerated 0.011 1/7
  Novel Chr13:32906700 p.Thr363fs c.1084_1085insAC NA NA 1/7