Skip to main content

Table 3 Common polymorphisms and intronic variants of BRCA 1 gene identified

From: Novel sequence variants and a high frequency of recurrent polymorphisms in BRCA1gene in Sri Lankan breast cancer patients and at risk individuals

E/I NT Base Change Codon AA Change Designation Variation type BIC Entry
I-7 560+36 C>T Non- coding -- IVS7+36T>C UV No
I-7 560+38 T>C Non- coding -- IVS7+38T>C UV Yes
I-7 560+41 C>T Non- coding -- IVS7+41C>T UV No
I-7 560+49 DelT Non- coding -- IVS7+49del15 UV No
I-8 561-34 C>T Non- coding -- IVS7-34C>T IVS Yes
11-B 2196 G>A 693 Asp > Asn c.2196G>A M-P Yes
11-B 2201 C>T 694 Ser>Ser c.2201C>T Silent-P Yes
11-B 2430 T>C 771 Leu>Leu c.2430T>C Silent-P Yes
11-C 2731 C>T 871 Pro>Leu c.2731C>T M-P Yes
11-C 3232 A>G 1038 Glu>Gly c.3232A>G M-P Yes
11-D 3667 A>G 1183 Lys>Arg c.3667A>G M-P Yes
13 4427 T>C 1436 Ser>Ser c.4427T>C Silent-P Yes
16 4931 A>G 1604 Gln>Gln c.4931A>G Silent-P Yes
16 4956 A>G 1613 Ser>Gly c.4956A>G M-P Yes
16 5075 A>G 1652 Met>Ile c.5075G>A M-P Yes
  1. E/I: Exon/Intron, M: missense alteration, P: polymorphism, UV: unclassified variant