2024-03-29 TNFRSF11A - NM_003839.4 Location Usual name protein name Sequence change Alteration N base(s) Base substituted Classification Status Using In silico prediction? Fonctional test Functional approach? Consequence Techniques used Disease related symptoms Associated phenotype Zygosity in this patient Inheritance in this patient Ancestry/origin Comment Input date References Other PMID 5 flanking c.-45A>G p.(?) c.-45A>G substitution 1 A>G Likely pathogenic YES NO Sequencing Sanger Sequencing NGS Symptomatic Osteopetrosis Unknown Unknown / 2020-04-02 Publication (PubMed PMID): 32097281 Exon 1 A5V p.(Ala5Val) c.14C>T substitution 1 C>T Not classified UNKNOWN NO Sequencing Sanger Symptomatic Recurrent Fever Unknown Unknown Portugal/Caucasian 2014-07-24 Jéru I and colleagues Personal communication Exon 1 Q25L p.(Gln25Leu) c.74A>T substitution 1 A>T Uncertain significance (VUS) UNKNOWN NO Sequencing NGS Unknown NO Unknown Unknown France/ microretrognathism, cleft palate and carpotarsal osteolysis treated by surgery but no autoinflammatory syndrome 2019-05-13 Geneviève D Fabre A Barat M Touitou I Personal communication Exon 4 R129C p.(Arg129Cys) c.385C>T substitution 1 C>T Likely pathogenic UNKNOWN UNKNOWN Sequencing Sanger Sequencing NGS Symptomatic Dysosteosclerosis Unknown Unknown Turkey/Mediterranean 2021-01-11 Publication (PubMed PMID): 33402699 Exon 4 p.A139Wfs*19 and p.E132Dfs*19 p.0 c.414_427+7del deletion 21 CGCCCAGCACCCGTGTACGGG Likely pathogenic UNKNOWN YES Cell free system Aberrant mRNA splicing Sequencing Sanger Sequencing NGS Symptomatic Dysosteosclerosis Unknown Unknown British-Asian father and British mother/Caucasian Asian Generated two aberrant splicing products (p.A139Wfs*19 and p.E132Dfs*19) that lead to nonsense mediated mRNA decay (NMD) 2021-01-11 Publication (PubMed PMID): 33037392 Exon 4 H141Y p.(His141Tyr) c.421C>T substitution 1 C>T Benign YES NO Sequencing Sanger Sequencing NGS Symptomatic UNKNOWN Unknown Unknown Italy/Caucasian 2019-07-16 Grossi A Ceccherini I Personal communication Intron 6 delExon6 p.(Asn174Lysfs*31) c.616+3A>G substitution 1 A>C Not classified UNKNOWN YES Unknown Aberrant mRNA splicing Sequencing Sanger Sequencing NGS Symptomatic Dysosteosclerosis Unknown Unknown Turkey/ 2018-03-26 Publication (PubMed PMID): 29568001 Exon 7 K240E p.(Lys240Glu) c.718A>G substitution 1 A>G Uncertain significance (VUS) UNKNOWN NO Sequencing NGS Non symptomatic Undefined-AID Kartagener Unknown Unknown Italy/Mediterranean 2019-05-13 Soler C Rittore C Rama M Sarrabay G Touitou I Personal communication Exon 9 E262* p.(Glu262*) c.784G>T substitution 1 G>T Likely pathogenic YES YES Culture studies Cell free system Aberrant mRNA splicing Sequencing Sanger Symptomatic TNFRSF11A-dysosteosclerosis Unknown Unknown Japan/Asian 2019-07-11 Publication (PubMed PMID): 31163101 Exon 9 G316D p.(Gly316Asp) c.947G>A substitution 1 G>A Uncertain significance (VUS) UNKNOWN NO Sequencing NGS Unknown Undefined-AID Unknown Unknown Tunisia/Mediterranean 2019-05-13 Melki I Rittore C Sarrabay G Touitou I Personal communication Exon 9 V380V p.(Val380=) c.1140G>A substitution 1 G>A Not classified UNKNOWN NO Sequencing NGS Unknown Undefined-AID Unknown Unknown France/Mediterranean 2019-05-13 Labreze C Rittore C Sarrabay G Touitou I Personal communication Exon 9 M416Cfs*110 p.(Met416Cysfs*110) c.1245del deletion 1 Cdel Not classified UNKNOWN YES Unknown Frameshift Sequencing Sanger Symptomatic Recurrent Fever Unknown Unknown Poland/Caucasian 2014-07-24 Publication (PubMed PMID): 24891336 Exon 9 D427N p.(Asp427Asn) c.1279G>A substitution 1 G>A Not classified UNKNOWN NO Sequencing Sanger Sequencing NGS Symptomatic Unclassified autoinflammatory syndrome Unknown Unknown France/Caucasian 2015-12-04 Guilpain P Genevieve D Dumont B Sarrabay G Touitou I Personal communication Exon 9 R450W p.(Arg450Trp) c.1348C>T substitution 1 C>T Not classified UNKNOWN NO Sequencing NGS Unknown Undefined-AID Unknown Unknown France/Mediterranean 2019-05-13 Perez MJ Fabre A Geneviève D Barat M Touitou I Personal communication Exon 9 R466H p.(Arg466His) c.1397G>A substitution 1 G>A Likely benign YES NO Sequencing Sanger Sequencing NGS Symptomatic UNKNOWN Unknown Unknown Italy/Caucasian 2019-07-16 Grossi A Ceccherini I Personal communication Exon 9 A507T p.(Ala507Thr) c.1519G>A substitution 1 G>A Likely benign YES NO Sequencing Sanger Sequencing NGS Symptomatic UNKNOWN Unknown Unknown Italy/Caucasian 2019-07-16 Grossi A Ceccherini I Personal communication Exon 10 M540V p.(Met540Val) c.1618A>G substitution 1 A>G Not classified UNKNOWN NO Sequencing NGS Unknown Undefined-AID Unknown Unknown France/ 2019-05-13 Bader Meunier B Rittore C Ruault V Boursier G Touitou I Personal communication Exon 10 F542L p.(Phe542Leu) c.1626C>A substitution 1 C>A Uncertain significance (VUS) UNKNOWN NO Sequencing NGS Unknown Undefined-AID DiGeorge Unknown Unknown France/ 2019-05-13 Chevallier B Rittore C Rama M Sarrabay G Touitou I Personal communication Exon 10 S555Cfs*121 p.(Ser555Cysfs*121) c.1664del deletion 1 C Likely pathogenic UNKNOWN YES Cell free system Frameshift Sequencing Sanger Sequencing NGS Symptomatic Dysosteosclerosis Unknown Unknown British-Asian father and British mother/Caucasian Asian 2021-01-11 Publication (PubMed PMID): 33037392 Exon 10 R568H p.(Arg568His) c.1703G>A substitution 1 G>A Uncertain significance (VUS) UNKNOWN NO Sequencing NGS Symptomatic Non symptomatic Undefined-AID Unknown Unknown France/Caucasian 2019-05-13 Isidor B Colin E Rittore C Sarrabay G Touitou I Personal communication Exon 10 E610G p.(Glu610Gly) c.1829A>G substitution 1 A>G Uncertain significance (VUS) UNKNOWN NO Sequencing NGS Unknown Undefined-AID Unknown Unknown France/ 2019-05-13 Pugnet G Rittore C Tharreau M Boursier G Sarrabay G Touitou I Personal communication