Exomiser Analysis Results for Slartibartfast

Analysis Settings

Settings used for this analysis:

ExomiserSettings{vcfFilePath=Pfeiffer.vcf, pedFilePath=null, prioritiser=exomiser-mouse, maximumFrequency=1.0, minimumQuality=0.0, geneticInterval=null, removePathFilterCutOff=false, removeDbSnp=false, removeOffTargetVariants=true, candidateGene=, modeOfInheritance=AUTOSOMAL_DOMINANT, diseaseId=OMIM:101600, hpoIds=[], seedGeneList=[], numberOfGenesToShow=0, outFileName=results/Pfeiffer-exomiser-results, outputFormat=[HTML], diseaseGeneFamilyName=, buildVersion=, buildTimestamp=}

Filtering Summary

Filter Report Passed filter Failed filter
Frequency
    Allele frequency < 1.00 %
16916 20793

Variant Type Distribution

Variant Type Slartibartfast
MISSENSE 1

Analyzed samples

//if there is a multi-sample pedigree we want to see the analysis: //HTMLTable.writePedigreeTable()

affected: red, parent of affected: light blue, unaffected: white

if (this.pedigree.isNthPersonAffected(i)) { } else if (this.pedigree.isNthPersonParentOfAffected(i)) { } else { }
Sample name: manuel
famidididfathID mothID sex disease

Prioritised Genes

Exomiser Score: 1.00 (p=0.1e-4)

Phenotype Score: 1.00

Variant Score: 1.00

Phenotype matches:
Gene scores under compatible inheritance modes:

Exomiser Score: 1.005 (p=0.1e-4)

Phenotype Score: 1.005

Variant Score: 1.005

No phenotype matches to diseases with this MOI.
Phenotype matches to diseases consistent with this MOI:
Phenotypic similarity 0.957 to OMIM:101600 APERT SYNDROME
Variants contributing to score:
MISSENSE SNV chr10:g.123256215T>G [0/1] 10 Mb rs141235720 esv3097123 nsv819538 dgv1891n106 12345
Exomiser ACMG: BENIGN LIKELY_BENIGN LIKELY_PATHOGENIC PATHOGENIC UNCERTAIN_SIGNIFICANCE NOT_AVAILABLE [PVS1, BP2]
ClinVar: BENIGN BENIGN_OR_LIKELY_BENIGN LIKELY_BENIGN LIKELY_PATHOGENIC PATHOGENIC_OR_LIKELY_PATHOGENIC PATHOGENIC UNCERTAIN_SIGNIFICANCE (criteria_provided,_single_submitter)
Variant score: 0.600 CONTRIBUTING VARIANT WHITELIST VARIANT
Transcripts:
FGFR2:uc001lfg.4:c.518A>C:p.E173A FGFR2:ENST00000429361.1:c.518A>C:p.E173A FGFR2:NM_000141:c.518A>C:p.E173A
Pathogenicity Data:
1.00
No pathogenicity data
Mutation Taster: 0.999 (P)
Frequency Data:
No frequency data
1000Genomes: 0.02%
Other passed variants:
MISSENSE SNV chr10:g.123256215T>G [0/1] 10 Mb rs141235720 esv3097123 nsv819538 dgv1891n106 12345
ClinVar: BENIGN BENIGN_OR_LIKELY_BENIGN LIKELY_BENIGN LIKELY_PATHOGENIC PATHOGENIC_OR_LIKELY_PATHOGENIC PATHOGENIC UNCERTAIN_SIGNIFICANCE (criteria_provided,_single_submitter)
Pathogenicity Data:
1.00
No pathogenicity data
Mutation Taster: 0.999 (P)
Frequency Data:
No frequency data
1000Genomes: 0.02%

Unanalysed Variants

MISSENSE chr10:g.123256215T>G [0/1] 10 Mb rs141235720

About

The Exomizer is a Java program that functionally annotates variants from whole-exome sequencing data starting from a VCF file (version 4). The functional annotation code is based on Jannovar and uses UCSC KnownGene transcript definitions and hg19 genomic coordinates

Variants are prioritized according to user-defined criteria on variant frequency, pathogenicity, quality, inheritance pattern, and model organism phenotype data. Predicted pathogenicity data was extracted from the dbNSFP resource.

Developed by the Computational Biology and Bioinformatics group at the Institute for Medical Genetics and Human Genetics of the Charité - Universitätsmedizin Berlin, the Mouse Informatics Group at the Sanger Institute and the Smedley group at Queen Mary University of London.

Problems, suggestions, or comments? Please let us know