Page 37 - EJMO-9-1
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Eurasian Journal of Medicine and
Oncology
BRCA VUS in breast cancer in MENA region
(Cont'd...)
ClinVar classification Benign/Likely benign Conflicting interpretations of pathogenicity Conflicting interpretations of pathogenicity Conflicting interpretations of pathogenicity Conflicting interpretations of pathogenicity Conflicting interpretations of pathogenicity Uncertain significance Pathogenic Not reported Benign Uncertain significance Conflicting interpretations of pathogenicity Conflicting interpretations of pathogeni
dbSNP reference rs138663409 rs876660005 rs80357252 rs777981245 - rs80358581 rs587781764 rs80357429 - rs80358980 rs431825354 rs397509226 rs80359094 rs56121817 rs786201716 rs748609599 rs397507998 rs868735744
Consequence p.Asn363Ser p.Pro798Arg p.Ala322Pro p.Glu1665Gly p.Asp777Asn p.Ser1123Gly p.Thr2403Ala p.Ser1596Ter p.Thr2482Lys p.Leu2512Phe p.Tyr2543Cys p.Val1696Ala p.Val2818Phe p.Pro3292Leu p.Pro41Leu p.Pro89Leu - -
Mutation type MS MS MS MS MS MS MS NS MS MS MS MS MS MS MS MS Splice donor IVS
Genetic variant c. 1088A > G c. 2393C > G c. 964G > C c. 4994A > G c. 2329G > A c. 3367A > G c. 7207A > G c. 4787C > A c. 7445C > A c. 7534C > T c. 7628A > G c. 5087T > C c. 8452G > T c. 9875C > T c. 122C > T c. 266C > T c. 8632 + 2T > C c. 301 + 55G > A
Exon Exon 10 Exon 10 Exon 10 Exon 10 Exon 11 Exon 11 Exon 14 Exon 15 Exon 15 Exon 15 Exon 16 Exon 17 Exon 19 Exon 27 Exon 3 Exon 3 intron 20 Intron 5
Gene BRCA1 BRCA1 BRCA1 BRCA2 BRCA2 BRCA2 BRCA2 BRCA1 BRCA2 BRCA2 BRCA2 BRCA1 BRCA2 BRCA2 BRCA2 BRCA2 BRCA2 BRCA1
Year of publication 2018 2018 2018 2018 2018 2018 2018 2018 2018 2018 2018 2018 2018 2018 2018 2018 2018 2018
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Authors
Table 2. (Continued) Country Region Saudi Middle East Arabia Saudi Middle East Arabia Saudi Middle East Arabia Saudi Middle East Arabia Saudi Middle East Arabia Saudi Middle East Arabia Saudi Middle East Arabia Saudi Middle East Arabia Saudi Middle East Arabia Saudi Middle East Arabia Saudi Middle East Arabia Saudi Middle East Arabia Saudi Middle East Arabia Saudi Middle East Arabia Saudi Middle East
Volume 9 Issue 1 (2025) 29 doi: 10.36922/ejmo.5800

