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Table 2 De novo mutations of ARID1B identified in two cases

From: Identification of de novo mutations for ARID1B haploinsufficiency associated with Coffin–Siris syndrome 1 in three Chinese families via array-CGH and whole exome sequencing

Cases Sex Location (GRCh37/hg19) Nucleotide Amino acid Zygosity dbSNP ID Origin ACMG Population frequencies Impact
2 Female chr6:157,431,696 c.2332 + 1G > A Het De novo PVS1 + PS2 + PM2 Splicing donor loss
3 Female chr6:157,522,259 c.4741C > T p.Q1581X Het rs1554235831 De novo PVS1 + PS2 + PM2 Stop gain
  1. Het, heterozygous; X, stop codon; PVS1, pathogenic very strong, represent “loss-of-function”; PS2, pathogenic strong, 2 represent “de novo”; PM2; pathogenic moderate, 2 represent “absent from controls”