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Table 2 Genotypes and interpretation of patients with uncertain genetic results

From: Genetic profiling of autoinflammatory disorders in patients with periodic fever: a prospective study

  GENE/cDNA accession rs ID/mutation MAF (1000 g) Interpretation
1 NLRP12/NM_144687.2 rs141245482/c.910C > T H304Y < 0.01 Single mutations of uncertain significance
2 NLRP3/NM_001079821.2 rs142651552/c.2024G > A Q705K  
3 NLRP12/NM_144687.2 rs34971363/c.1206C > G; F402L 0.03
4 NLRP12/NM_144687.2 rs34971363/c.1206C > G; F402L 0.03
5 NLRP12/NM_144687.2 rs34971363/c.1206C > G; F402L 0.03
6 NLRP3/NM_001079821.2 rs142651552/c.2024G > A Q705K  
7 TNFRS1A/NM_001065.3 rs4149584/c.362G > A; R121Q 0.01
8 NLRP12/NM_144687.2 rs34971363/c.1206C > G; F402L 0.03
9 NLRP12/NM_144687.2 rs34971363/c.1206C > G; F402L 0.03
10 NLRP12/NM_144687.2 rs34971363F/c.1206C > G; F402L 0.03
11 TNFRS1A/NM_001065.3 rs4149584/c.362G > A; R121Q 0.01
1 MEFV/NM_000243.2 rs224222/c.602G > A; R202Q 0.17 Multiple mutations of uncertain significance
MEFV/NM_000243.2 rs224222/c.602G > A; R202Q* 0.17
2 MVK/NM_000431.2 rs7957619/c. 155G > A S52N 0.09
MVK/NM_000431.2 rs7957619/c. 155G > A S52N 0.09
3 NLRP12/NM_144687.2 rs34971363/c.1206C > G; F402L 0.03
NLRP3/NM_001079821.2 rs142651552/c.2024G > A; Q705K NA
MEFV/NM_000243.2 rs224222/c.602G > A; R202Q 0.17
MVK/NM_000431.2 rs7957619/c. 155G > A S52N 0.09
4 NLRP12/NM_144687.2 rs34971363/c.1206C > G; F402L 0.03
MEFV/NM_000243.2 rs224222/c.602G > A R202Q 0.17
5 NLRP3/NM_001079821.2 rs142651552/c.2024G > A Q705K 0.17  
MEFV/NM_000243.2 rs224222/c.602G > A R202Q
6 NLRP3/NM_001079821.2 rs142651552/c.2024G > A Q705K 0.02
MEFV/NM_000243.2 rs11466023/c.1105C > T; P369S 0.02
MEFV/NM_000243.2 rs11466024/c.1223G > A; R408Q
1 MEFV/NM_000243.2 rs61732874/c.2230G > T; A744S <0.01 Heterozygous mutations associated with autosomal recessive disorders
2 MEFV/NM_000243.2 rs3743930/c.442G > C E148Q 0.08
3 MEFV/NM_000243.2 rs11466045/c.1772T > C; I591T 0.01
4 MEFV/NM_000243.2 rs224222/c.602G > A R202Q 0.17
MEFV/NM_000243.2 rs61752717/c.2080A > G M694V 0.09
MVK/NM_000431.2 rs7957619/c. 155G > A S52N
5 MEFV/NM_000243.2 rs3743930/c.442G > C E148Q 0.08
MEFV/NM_000243.2 rs224222/c.602G > A R202Q 0.17
6 NLRP12/NM_144687.2 rs34436714 c.116G > T; G39V 0.25
MVK/NM_000431.2 rs28934897 c.1129G > A V377I
7 MEFV/NM_000243.2 rs224222/c.602G > A R202Q 0.17
MVK/NM_000431.2 rs28934897 c.1129G > A V377I
  1. *Although hetherozygous R202Q variant in MEFV is considered a common polymorphism not to be reported, the same variant in homozygosis has been associated to cases of Familial Mediterranean Fever in Greece [32].