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Table 3 Examples of InSiGHT DNA and protein changes for variants causing similar DNA and/or protein changes as the variants identified in the Polish families

From: A rare large duplication of MLH1 identified in Lynch syndrome

Gene

CHROM_POS_REF_ALTa

InSiGHT DNA change [protein change]

InSiGHT class

MLH1

3_37070422-37070423_G_GT

c.1557_1558insT [p.(Val520Cysfs*8)]b

pathogenic

MLH1

3_37067349_TA_T

c.1261del [p.(Ser421Valfs*70)]c

pathogenic

MSH2

2_47639700_G_A

c.792 + 1G > Ad

pathogenic

  1. a Human genome build hg19, assembly hs37d5
  2. b nearby position with similar consequence as caused by the large duplication in Family A
  3. c nearby position with similar consequence as caused by the frameshift variant in Family B
  4. d same position as the splice site variant in Family C, different nucleotide change
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Hereditary Cancer in Clinical Practice

ISSN: 1897-4287