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Table 4 BRCA1/2 missense variants identified in 94 (non Askenazi) Argentinean breast/ovarian cancer cases

From: BRCA1 And BRCA2 analysis of Argentinean breast/ovarian cancer patients selected for age and family history highlights a role for novel mutations of putative south-American origin

HGVS : Protein: DNA BIC: Status N° Carrier (%) Co-occurrence with deleterious Prediction SIFT GVGD grade refSNP
BRCA1        
p. Arg7Cys c.19C > T CU 2(1.1) - NT C15 rs144792613
p. Cys61Gly c.181 T > G D 1 (1.1) - NT C65 -
p. Arg71Gly c.211A > G D 1 (1.1) - NT C65 -
p. Val122Asp c.365 T > A NR 5 (5.3) BRCA2 T C0 -
p. Gln139Lys c.415C > A NR 6 (6.3) - T C0 -
p. Tyr179Cys c.536A > G CU 1 (1.1) BRCA1[30] (AB80) NT C35 rs56187033
p. Gln356Arg c.1067A > G CU 10 (10.6) BRCA1/BRCA2# T C0 rs1799950
p. Phe486Leu c.1456 T > C CU 1 (1.1) BRCA1[30] (AB80) T C0 rs55906931
p. Val525Ile c.1573 G > A CU 1 (1.1) - T C0 rs80357273
p. Asn550His c.1648A > C CU 1 (1.1) BRCA1[30] (AB80) NT C0 rs56012641
p. Asp693Asn c.2077 G > A CN 8 (8.5) BRCA1 T C0 rs4986850
p. Pro871Leu c.2612C > T CN 29 (30.9) BRCA1/BRCA2# T C0 rs799917
p. Lys898Glu c.2692A > G CU 1 (1.1) BRCA2 T C0 rs80357420
p. Met1008Ile c.3024 G > A CU 1 (1.1) BRCA1[30] T C0 rs1800704
p. Glu1038Gly c.3113 G > A CN 33 (35.1) BRCA1/BRCA2# T C0 rs16941
p. Ser1040Asn c.3119 G > A CU 1 (1.1) BRCA1[31] T C0 rs4986852
p. Asp1131Glu c.3393C > G NR 1 (1.1) BRCA2 T C0 -
p. Lys1183Arg c.3548A > G CN 34 (36.2) BRCA1/BRCA2# T C0 rs16942
p. Ile1275Val c.3823A > G CU 8 (8.5) - T C0 rs80357280
p. Glu1586Gly c.4757A > G NR 1 (1.1) - NT C0 -
p. Ser1613Gly c.4837A > G CN 33 (35.1) BRCA1/BRCA# T C0 rs1799966
p. Met1652Thr c.4955 T > C CU 1 (1.1) - NT C25 rs80356968
BRCA2        
p. Tyr42Cys c.125A > G CU(BIC) 1 (1.1) - T C0 rs4987046
p. Asn289His c.865A > C CN 5 (5.3) BRCA2 NT C0 rs766173
p. His372Asn c.1114C > A CN 24 (4.2) BRCA1/BRCA2# T C0 rs144848
p. Arg858Ile c.2578 G > T NR 1 (1.1) BRCA2 T C0 -
p. Asn991Asp c.2971A > G CN 4 (4.2) BRCA2 T C0 rs1799944
p.Q1063K c.3187C > A NR 1 (1.1) - T C0 -
p. Asp1420Tyr c.4258 G > A CN 1 (1.1) BRCA2[32] T C0 rs28897727
p. Met1915Thr c.5744 T > C CU 1 (1.1) - T C0 rs4987117
p. Ser2098Phe c.6749C > T CU 1 (1.1) - T C0 rs80358867
p. Arg2108His c.6323 G > A CU 1.(1.1) - T C0 rs35029074
p. Ala2466Val c.7397C > T CU 37 (39.4) BRCA1/BRCA2# NT C0 rs169547
p. Asn2486Lys c.7919 T > G NR 1(1.1) - T C0 -
p. Ile2490Thr c.7469 T > C CU 6 (6.3) - NT C0 rs11571707
p. Asp2723His c.8167 G > C CU 1 (1.1) - NT C65 rs41293511
p. Ile3412Val c.10690A > G CU 3 (3.2) - T C0 rs1801426
  1. NR, Not Reported CU, Clinically Unknown; CN, clinically not important, in Breast Information Core database (BIC), http://research.nhgri.nih.gov/bic/;
  2. In bold missense predict deleterious; NT, Not Tolerated; T, Tolerated; Align-GVGD grade between C0 and C65; Co-occurrence: # two or more patients.