Skip to main content

Table 1 BRCA1 and BRCA2 mutations and unclassified variants

From: Contribution of BRCA1 and BRCA2 germline mutations to early onset breast cancer: a series from north of Morocco

Variant Exon BIC Nomenclature BIC entriesa Type Protein Clinical significance BRCA exchangea
NM_007294.3 (BRCA1):c.116G > A 3 235G > A 5 Missense NP_009225.1:p.Cys39Tyr Likely Pathogenic Not yet reviewed
NM_007294.3(BRCA1):c.2125_2126insA 11 2244insA 2 Frameshift NP_009225.1:p.Phe709Tyrfs Pathogenic Pathogenic
NM_007294.3 (BRCA1):c.798_799del 11 917_918del 28 Frameshift NP_009225.1:p.Ser267Lysfs Pathogenic Pathogenic
NM_000059.3 (BRCA2): c.289G > T 3 516G > T 0 Nonsense NP_000050.2:p.Glu97Ter Pathogenic Pathogenic
NM_000059.3(BRCA2):c.5116_5119delAATA 11 5344delAATA 1 Frameshift NP_000050.2:p.Asn1706Leufs Pathogenic Pathogenic
NM_000059.3(BRCA2):c.4090A > G 11 4317A > G 0 Missense NP_000050.2:p.Ile1364Val VUS Not Yet Reviewed
NM_000059.3(BRCA2):c.6322C > T 11 6549C > T 22 Missense NP_000050.2:p.Arg2108Cys Conflicting interpretations of pathogenicity Not Yet Reviewed
  1. a: Accessed 06/08/2019. Abbreviations: VUS Variants of Unknown Significance