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Table 6 BRCA1 and BRCA2 variants of unknown significance detected in breast and ovarian cancer families from Asturias

From: Mutational analysis of BRCA1 and BRCA2 in hereditary breast and ovarian cancer families from Asturias (Northern Spain)

Gene Exon BIC nomenclature HGVS nomenclature Predicted effect Nº families Reference
BRCA1 3 234T>A c.115T>A p.Cys39Ser 1 BIC, LOVD
5 318G>T c.199G>T p.Asp67Tyr 2 BIC, LOVD
6   c.287A>C p.Asp96Ala 1 Novel
10   c.656A>T p.Asp219Val 1 Novel
11 1186A>G c.1067A>G p.Gln356Arg 1 BIC, LOVD
11 4158A>G c.4039A>G p.Arg1347Gly 1 BIC, LOVD
15 4654G>T c.4535G>T p.Ser1512Ile 1 BIC, LOVD
16 5075A>A c.4956G>A p.Met1652Ile 2 BIC, LOVD
17 5173C>T c.5054C>T p.Thr1685Ile 1 BIC, LOVD
19 5273G>T c.5154G>T p.Trp1718Cys 2 BIC, LOVD
21 IVS20-6_IVS20-4del c.5278-6_5278-4del No effect 1 Campos et al. [42]
22 IVS21-8C>T c.5333-8C>T Unkown 1 BIC
BRCA2 3 IVS2-T7>A) c.68-7T>A p.Asp23_Leu105del 2 BIC, LOVD
10   c.1714G>A p.Val572Ile 1 UMD-BRCA2
11 6110G>A c.5882G>A p.Ser1961Asn 1 BIC
11 6328C>T c.6100C>T p.Arg2034Cys 2 BIC, LOVD
11 6976A>G c.6748A>G p.Thr2250Ala 1 BIC, LOVD
11   c.6847C>A p.Pro2283Thr 1 Novel
18   c.8023A>G p.Ile2675Val 1 UMD-BRCA2, LOVD
20 8731T>C c.8503T>C p.Ser2835Pro 2 BIC, LOVD
22 9078G>T c.8850G>T p.Lys2950Asn 1 BIC, LOVD
27 10204A>T c.9976A>T p.Lys3326* 2 BIC, LOVD
  1. UMD-BRCA2: http://www.umd.be/BRCA2/.
  2. LOVD, BRCA1: http://chromium.liacs.nl/LOVD2/cancer/home.php?select_db=BRCA1.
  3. LOVD, BRCA2: http://chromium.liacs.nl/LOVD2/cancer/home.php?select_db=BRCA2.