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Table 1 Most common pathogenic BRCA1 and BRCA2 variants in ExAC

From: Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation

Gene Variant Effect Allele count MAF Type
BRCA1 NM_007294.3:c.68_69delAG p.Glu23Valfs*17 29 0.024% Founder [24]
BRCA1 NM_007294.3:c.5266dupC p.Gln1756Profs*74 19 0.016% Founder [24]
BRCA1 NM_007294.3:c.181 T > G p.Cys61Gly 8 0.0067% Founder [36]
BRCA1 NM_007294.3:c.4035delA p.Glu1346Lysfs*20 5 0.0041% Founder [37]
BRCA1 NM_007294.3:c.1687C > T p.Gln563* 5 0.0041% Founder [38]
BRCA2 NM_000059.3:c.5946delT p.Ser1982Argfs*22 32 0.027% Founder [24]
BRCA2 NM_000059.3:c.3847_3848delGT p.Val1283Lysfs*2 11 0.011% Recurrent [39]
BRCA2 NM_000059.3:c.658_659delGT p.Val220Ilefs*4 6 0.0061% Recurrent [40, 41]
BRCA2 NM_000059.3:c.7480C > T p.Arg2494* 6 0.0050% Founder [42]
BRCA2 NM_000059.3:c.3545_3546delTT p.Phe1182* 4 0.0033% Recurrent [43, 44]
BRCA2 NM_000059.3:c.3599_3600delGT p.Cys1200* 4 0.0033% Recurrent [45]
BRCA2 NM_000059.3:c.5576_5579delTTAA p.Ile1859Lysfs*3 4 0.0033% Recurrent [46, 47]
BRCA2 NM_000059.3:c.7069_7070delCT p.Leu2357Valfs*2 4 0.0033% Recurrent [48]
BRCA2 NM_000059.3:c.9118-2A > G Splice acceptor 4 0.0033% Recurrent [39, 49]
  1. Fourteen pathogenic variants in BRCA1 and BRCA2 were observed in more than three individuals in the ExAC cohort. All of these variants have been previously reported as founder or common recurrent variants. Some of these recurrent variants are suggested to be founder mutations, but have not been confirmed as such. MAF minor allele frequency