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Table 2 Novel variants in BRCA1 (NM_007294.3) and BRCA2 (NM_000059.3) genes detected in 398 probands with diagnosis of epithelial ovarian cancer

From: BRCA1 and BRCA2 mutations and clinical interpretation in 398 ovarian cancer patients: comparison with breast cancer variants in a similar population

Sample ID Gene Exon/intron Mutationa Predicted effectb MT CSc LOVD (genomic variant #)
BR1229 1B 11 c.2005dupA p.(Met669Asnfs*4) F LP 198881
BR2066 1B 11 c.3758_3759delCT p.(Ser1253*) F LP 196851
BR1037 1B 11 c.876_879delCACT p.(Thr293Lysfs*4) F LP 198751
BR1410 2B 11 c.2133C>A p.(Cys711*) N LP 202233
BR0986 2B 11 c.2860G>T p.(Glu954*) N LP 197664
BR0832 2B 11 c.4419delC p.(Asn1473Lysfs*6) F LP 201398
BR2072 2B 11 c.5253C>A p.(Tyr1751*) N LP 203562
BR1464 2B 14 c.7308delC p.(Asn2436Lysfs*31) F LP 206927
BR0495 2B 16i c.7805+2_7805+3delTA   S LP 199222
BR1104 1B 11 c.2357T>C p.(Leu786Pro) M VUS 200898
BR0889 1B 11 c.3168C>T p.(Ser1056=) Syn VUS 200773
BR1061 1B 10i c.670+31A>C   S VUS 196392
BR2063 1B 13i c.4357+22C>T   S VUS 209404
BR1078 1B 2i c.80+52T>A   S VUS 196406
BR0913 2B 6i c.516+3A>T   S VUS 199956
  1. MT mutation type, F frameshift, N nonsense, S splicing, M missense, Syn synonym, LP likely pathogenic, VUS variant of uncertain significance
  2. aHGVS nomenclature at cDNA level
  3. bHGVS nomenclature at protein level
  4. cCS: interpretation and classification of the variants was carried out according to the recommendations of the ACMG guidelines
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