A rare large duplication of MLH1 identified in Lynch syndrome

Table 1 Mismatch repair gene variants in three colorectal cancer families

Family	Gene	CHROM_POS_REF_ALT^a	HGVS nomenclature^b	ANNOVAR annotation	Protein change
Family A	MLH1	3_37,045,366–37,071,869_dup	LRG_216t1_216:c.307-526_1558 + 1446dup	duplication exons 4–13	p.(Val520Glyfs*19)
Family B	MLH1	3_37067362_AG_A	LRG_216t1:c.1274del	frameshift	p.(Arg425Serfs*66)
Family C	MSH2	2_47639700_G_C	LRG_218t1:c.792 + 1G > C^c	splicing

^a Human genome build hg19, assembly hs37d5
^b according to den Dunnen JT: HGVS Recommendations for the Description of Sequence Variants: 2016 Update, Hum Mutat 37:564–569, 2016
^c ClinVar c.792 + 1G > C, likely pathogenic, review status: criteria provided, single submitter (accession number VCV000951452.1)

ISSN: 1897-4287