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Table 2 Possibly pathogenic and rare (MAF < 0.01) recessive variants mutations observed in each single trio (T). We did not observe any variants common to at least two trios

From: Whole exome sequencing in three families segregating a pediatric case of sarcoidosis

Trios Gene Chr. Position Variant QUAL Depth Annotation Reference SIFT Polyphen Function EXaC
Recessive Variants – MAF < 0.01
 T1 ZNF717 3 75787726 SNP 221,913 1345 c.1048C > T
p.Arg350Cys
(NM_001128223.1)
nd 0.14 0.689 * Zinc finger protein
Unknown
nd
 T1 WNT2 7 116963030 SNP 7083 305 c.14 T > G
p.Leu5Arg
(NM_003391.2)
rs145839592 0.39 0.063 Wnt/ß catenin pathway 0.0011
 T1 COG6 13 40254100 SNP 4954 228 c.624-3dupT
frame shift
(NM_020751.2)
rs397756552 High impact High impact  Complex Oligomer Golgi complex nd
 T1 BEGAIN 14 101036074 SNP 20,030 273 c.-16 + 1G > C
Splice donor
(NM_020836.3)
rs10140554 SPLICE DEFECT SPLICE DEFECT Guanylate kinase-associated protein nd
 T1 NDUFV3 21 44317156 SNP 8515 341 c.168A > C
p.Lys56Asn
(NM_021075.3)
rs141922962 0.01 * 0.927 * Mitochondrial complex I subunit 0.0051
 T2 SHROOM1 5 132161699 SNP 13,112 130 c.134C > A
p.Pro45Gln
(NM_001172700.1)
rs143556262 0.02 * 0.274 Regulator of the microtubule cytoskeleton 0.0065
 T2 FMNL1 17 43320554 SNP 7318 194 c.2080G > A
p.Ala694Thr
(NM_005892.3)
rs76949926 1 0.121 Rac1-mediated cell migration and division 0.0019
 T3 DCP1B 12 2062323 In frame INS 65,685 295 c.780_782dupGCA
p.Gln261dup
(NM_152640.3)
rs149912567 nd * nd * Decapping mRNA at the 5' end 0.00784
 T3 CHRNA3 15 78913067 In frame DEL 27,072 105 c.67_69delCTG
p.Leu23del
(NM_000743.4)
rs66793222 nd * nd * nicotinic acetylcholine receptor 0.00138
  1. Abbreviations: nd not defined, Chr. chromosome, SNP single nucleotide polymorphism, QUAL. a quality parameter measuring the probability p that the observation of the variant is due to chance (for ex: QUAL = n, p = 1/n). INS insertion, DEL deletion, DUP duplication, NM NCBI reference sequence of mRNA, ExAC minor allele frequency as defined in Exome aggregation consortium, SIFT and POLYPHEN scores are indicated in italic bold characters and an asterisk when considered as pathogenic in silico