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Table 3 Founder variants identified among 112 BRCA1/2 expected pathogenic variants in the BioMe Biobank

From: Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank

GenecDNA position#BioMe self-reported ancestry (# Hets)BioMe genetic ancestry (# Hets)Previously described founder population (reference)
BRCA1c.5335delCESA (1)Filipino and other Southeast Asian (1)Filipino [32]
BRCA1c.5266dupCEA (6)AJ (5), non-AJ European (1)AJ [8, 33]
BRCA1c.5123C>AEA (1)Non-AJ European (1)Columbian, Spanish [34]
BRCA1c.4327C>TO (1)Non-AJ European (1)French Canadian [35], Mexican, Columbian, Peruvian [36]
BRCA1c.3817C>THA (1)Puerto Rican (1)Chilean [37]
BRCA1c.3756_3759delGTCTEA (2)Non-AJ European (1)French Canadian* [38]
BRCA1c.3331_3334delCAAGAA (1), HA (1)African American and African (1), other Central and South American (1)Colombian [34], Chilean [37]
BRCA1c.2475delCEA (1)AJ (1)Scandinavian* [39]
BRCA1c.303 T>GAA (1)African American and African (1)African [40]
BRCA1c.211A>GHA (2), ESA (1)Puerto Rican (2), Filipino and other Southeast Asian (1)Spanish [41]
BRCA1c.181 T>GEA (1)Non-AJ European (1)Polish* [42]
BRCA1c.116G>AM (1) Italian [43]
BRCA1c.68_69delAGEA (36), M (4), O (1)AJ (38)AJ [8, 44]
BRCA2c.2808_2811delACAAHA (1)Other Central and South American (1)Western European [45], Columbian [46]
BRCA2c.3922G>THA (8)Puerto Rican (7)Puerto Rican [47]
BRCA2c.4631delAO (1)Filipino and other Southeast Asian (1)Filipino [32]
BRCA2c.5351dupAM (1)Non-AJ European (1)Dutch [45]
BRCA2c.5576_5579delTTAAESA (1)Filipino and other Southeast Asian (1)Japanese [48]
BRCA2c.5857G>TAA (1)African American and African (1)French Canadian [49]
BRCA2c.5946delTEA (30), M (1), NA (1), O (2)AJ (30), non-AJ European (1)AJ [8, 45]
BRCA2c.6644_6647delACTCHA (1)African American and African (1)French* [50]
BRCA2c.7480C>TEA (1), HA (1)Non-AJ European (1), Dominican (1)Korean [51], Finnish [52]
BRCA2c.7913_7917delTTCCTEA (1)AJ (1)Czech* [53]
  1. Abbreviations: Hets heterozygous carriers, AA African American/African, AJ Ashkenazi Jewish, EA European, ESA East/Southeast Asian, HA Hispanic/Latino, M multiple selected ancestries, NA not available, O other self-reported ancestry
  2. #cDNA position provided for BRCA1 ENST00000357654 (NM_007294.3) and BRCA2 ENST00000380152 (NM_000059.3)
  3. *Variant described in literature as a founder variant, but no haplotype evidence available