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. 2022 Jun 18;42(7):1421–1432. doi: 10.1007/s10875-022-01298-2

Table 2.

Features of novel RIPK1 variants. 1Genome Build: GRCh37 / hg19; 2RefSeq: RIPK1: NM_003804.6. 3Classification of pathogenicity of gene variants performed on the consensus recommendations of the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP). Abbreviations: Chr, chromosome; MAF, minor allele frequency; NHLBI-ESP, National Heart, Lung and Blood Institute-Exome Sequencing Project; gnomAD, Genome Aggregation Database; CSVS, Collaborative Spanish Variant Server; SIFT, sorting intolerant from tolerant; CADD, Combined Annotation Dependent Depletion; n.r., not registered; VUS, variant of uncertain significance; LP, likely pathogenic

Family Families 1 and 2 Family 3
Structural features of variants
  Chromosome position1 Chr6: 3104505 Chr6: 3104514
  Reference allele T A
  Variant allele G G
   Gene2 RIPK1 RIPK1
   Exon 8 8
  cDNA alteration c.962T>G c.971A>G
  Predicted amino acid alteration p.(Leu321Arg) p.(Asp324Gly)
Population Genetics (MAF)
  1000 Genomes Project Phase 3 (2015 release) 0 0
  NHLBI-ESP (ESP6500SI-V2 version) 0 0
  Kaviar database (160204 version) 0 0
   gnomAD (v2.1.1) 0 0
  CSVS (3.0.1. version; February 2021 release) 0 0
   Bioinformatics
  Polyphen-2 (Hum Var) Probably damaging (1.00) Probably damaging (0.917)
   SIFT (Score) Deleterious (0) Deleterious (0.01)
  MutationTaster Disease causing Disease causing
  CADD PHRED 25.0 22.8
Phenotype-genotype databases
  ClinVar database n.r. n.r.
  INFEVERS database n.r. n.r.
  ACMG/AMP Variant Classification3 VUS LP