Skip to main content

Table 2 Pathogenic and likely pathogenic variants classified by ACMG-AMP guidelines

From: Genetic epidemiology of autoinflammatory disease variants in Indian population from 1029 whole genomes

Gene Variant SNPID Protein change ACMG criteria Classification Inheritance Disease
ADAR chr1:154602065:G>C rs145588689 c.C577G: p.P193A PM1, PP3, PM3, PP4 Likely pathogenic 5 AR AGS
IL36RN chr2:113060943:T:C rs148755083 c.115+6T>C: p.Arg10ArgfsX1 PS2, PS3, PP5 Pathogenic 2 AR DITRA
IL36RN chr2:113062547:C>T rs144478519 c.C338T: p.S113L PM1, PP3, PS3, PM3, PP1, PP4 Pathogenic 3b AR DITRA
AP1S3 chr2:223777862:A>C rs116107386 c.T11G: p.F4C PM1, PP3, PS3, BS4 Likely pathogenic 2 AD Pustular psoriasis
RNASEH2C chr11:65720385:G>A rs78635798 c.C205T: p.R69W PM1, PM2, PP3, PP5, PS3, PP1-M Pathogenic 3a AR AGS
MVK chr12:109586107:A>G rs104895364 c.A613G: p.N205D PM1, PM2, PP3, PP4 Likely pathogenic 5 AR HIDS
MVK chr12:109596515:G>A rs28934897 c.G1129A: p.V377I BP4, PS4, PM3, PP1-M Likely pathogenic 2 AR HIDS
RNASEH2B chr13:50945445:G>A rs75184679 c.G529A: p.A177T PM1, PP3, PP5, PS3, BS3, PP4 Likely pathogenic 2 AR AGS
PSTPIP1 chr15:77031192:C:T rs751668240 c.C850T: p.Q284X PVS1, PM2, PP3 Pathogneic 1c AD PAPA
NOD2 chr16:50711206:C>T rs2076754 c.C1295T: p.A432V PM1, PM2, PP3, BS3, PS4 Likely pathogenic 2 AD Blau Syndrome
NOD2 chr16:50711301:G>T rs104895492 c.G1390T: p.G464W PM2, PP3, PS3, PP1 Likely pathogenic 2 AD Blau Syndrome
NOD2 chr16:50712048:C>T rs104895440 c.C2137T: p.R713C PM2, PP3, PS3 Likely pathogenic 2 AD Blau Syndrome
CARD14 chr17:80184015:G>A rs200731780 c.G452A: p.R151Q PM2, BP4, PS3 Likely pathogenic 2 AD CAMPS
CARD14 chr17:80198685:C:T rs200379060 c.C1234T: p.R412X PVS1, PM2 Likely pathogenic 1 AD CAMPS
NLRP7 chr19:54936400:G>A rs104895525 c.C2161T: p.R721W PM2, PP3, PS1 Likely pathogenic 2 AR HYDM1
NLRP12 chr19:53810605:G:A rs199881207 c.C1054T: p.R352C PM1, PM2, PS3, PP3 Likely pathogenic 2 AD FACS
ADA2 chr22:17203564:G>A rs148936893 c.C626T: p.P209L PM1, PM2, BP4, PP5, PS3, PM3, PP1 Pathogenic 3a AR DADA2
ADA2 chr22:17209538:C>A rs200930463 c.G140T: p.G47V PM1, PM2, PP3, PP5, PM5 Likely pathogenic 4 AR DADA2
ADA2 chr22:17209539:C>G rs202134424-G c.G139C: p.G47R PM1, PM2, PP3, PS1, PS3, PS4 Pathogenic 2 AR DADA2
ADA2 chr22:17209539:C>T rs202134424-T c.G139A: p.G47R PM1, PM2, PP3, PP5, PS3, PS4 Pathogenic 2 AR DADA2
  1. AGS Aicardi-Goutières syndrome, DITRA deficiency of interleukin-36-receptor antagonist, HIDS hyper IgD syndrome, CAMPS CARD14-mediated pustular psoriasis, HYDM1 hydatidiform mole, recurrent, 1, DADA2 deficiency of adenosine deaminase 2, AR autosomal recessive, AD autosomal dominant