Mutation Analysis - National Institutes of Health



*Family History of the trait: FORMCHECKBOX Maternal Side FORMCHECKBOX Paternal Side FORMCHECKBOX Unknown FORMCHECKBOX Neither FORMCHECKBOX Both Maternal and Paternal Sides*Mutational analysis results available on this participant/ subject: FORMCHECKBOX Yes FORMCHECKBOX No (Stop completing form)*Mutational analysis performed on the participant/ subject: FORMCHECKBOX Yes FORMCHECKBOX No*If no, was mutational analysis performed on a family member? FORMCHECKBOX Yes FORMCHECKBOX NoIf no, provide explanation: *Mutational analysis results:Mutation(s) detected: FORMCHECKBOX Homozygous FORMCHECKBOX Hemizygous FORMCHECKBOX Heterozygous – two alleles identified FORMCHECKBOX Heterozygous – only one allele identified FORMCHECKBOX Digenic (mutations in more than one gene) FORMCHECKBOX No mutation detectedAllele specific InformationAllele #1 Gene Name: *Mutation Class: FORMCHECKBOX Deletion FORMCHECKBOX Duplication FORMCHECKBOX Missense FORMCHECKBOX Nonsense FORMCHECKBOX Splice FORMCHECKBOX Pseudoexon FORMCHECKBOX Potential (variant of unknown significance) FORMCHECKBOX Subexonic Insertion/Deletion FORMCHECKBOX Other, specify: For Exonic Deletions/ Duplications:Was the copy number directly tested for all exons? FORMCHECKBOX Yes FORMCHECKBOX No FORMCHECKBOX UnknownAre the limits of deletions and duplications completely defined? FORMCHECKBOX Yes FORMCHECKBOX No FORMCHECKBOX Unknown*First Deleted/Duplicated Exon: *Last Deleted/Duplicated Exon: Whole gene deletion? FORMCHECKBOX Yes FORMCHECKBOX No FORMCHECKBOX UnknownPredicted reading frame: FORMCHECKBOX In FORMCHECKBOX Out FORMCHECKBOX UnknownAre known gene promoters deleted: FORMCHECKBOX Yes FORMCHECKBOX No FORMCHECKBOX UnknownFor Point Mutations or Pseudoexons:Was the entire coding region sequenced: FORMCHECKBOX Yes FORMCHECKBOX NoTargeted mutational analysis only: FORMCHECKBOX Yes FORMCHECKBOX NoIf Yes, type of analysis: FORMCHECKBOX Hot-spot FORMCHECKBOX Known familial mutation FORMCHECKBOX Other, specify: Point mutation location (choose one):Exon (Point Mutation): Intron: Other:Point mutation subclass information:Insertion Deletion: FORMCHECKBOX Insertion FORMCHECKBOX Deletion FORMCHECKBOX Insertion/DeletionNonsense Type: FORMCHECKBOX UAA FORMCHECKBOX UAG FORMCHECKBOX UGA FORMCHECKBOX Not applicablemRNA analysis mRNA analysis performed: FORMCHECKBOX Yes FORMCHECKBOX No FORMCHECKBOX UnknownIf Yes, were implications confirmed: FORMCHECKBOX Yes FORMCHECKBOX NoMutation Information (HUGO Mutation Nomenclature) *cDNA: (if relevant, data to be entered by site)mRNA: (if relevant, data to be entered by site)Protein: (if relevant, data to be entered by site)Allele Specific InformationAllele #2Was a second disease allele identified? FORMCHECKBOX Yes FORMCHECKBOX No (Stop completing form)Is allele #2 identical to allele #1 (Homozygous only): FORMCHECKBOX Yes (Stop completing form) FORMCHECKBOX NoGene Name: (if relevant, data to be entered by site)Mutation Class: FORMCHECKBOX Deletion FORMCHECKBOX Duplication FORMCHECKBOX Missense FORMCHECKBOX Nonsense FORMCHECKBOX Splice FORMCHECKBOX Pseudoexon FORMCHECKBOX Potential (variant of unknown significance) FORMCHECKBOX Subexonic Insertion/Deletion FORMCHECKBOX Other, specify: For Exonic Deletions/ Duplications:Was the copy number directly tested for all exons? FORMCHECKBOX Yes FORMCHECKBOX No FORMCHECKBOX UnknownAre the limits of deletions and duplications completely defined? FORMCHECKBOX Yes FORMCHECKBOX No FORMCHECKBOX UnknownFirst Deleted/Duplicated Exon: (if relevant, data to be entered by site)Last Deleted/Duplicated Exon: (if relevant, data to be entered by site)Whole gene deletion? FORMCHECKBOX Yes FORMCHECKBOX No FORMCHECKBOX UnknownPredicted reading frame: FORMCHECKBOX In FORMCHECKBOX Out FORMCHECKBOX UnknownAre known gene promoters deleted: FORMCHECKBOX Yes FORMCHECKBOX No FORMCHECKBOX UnknownFor Point Mutations or Pseudoexons:Was the entire coding region sequenced: FORMCHECKBOX Yes FORMCHECKBOX NoTargeted mutational analysis only: FORMCHECKBOX Yes FORMCHECKBOX NoIf Yes, type of analysis: FORMCHECKBOX Hot-spot FORMCHECKBOX Known familial mutation FORMCHECKBOX Other, specify:Point mutation location (choose one):Exon (Point Mutation): (if relevant, data to be entered by site)Intron: (if relevant, data to be entered by site)Other: (if relevant, data to be entered by site)Point mutation subclass information:Insertion Deletion: FORMCHECKBOX Insertion FORMCHECKBOX Deletion FORMCHECKBOX Insertion/DeletionNonsense Type: FORMCHECKBOX UAA FORMCHECKBOX UAG FORMCHECKBOX UGA FORMCHECKBOX Not applicable mRNA analysis mRNA analysis performed: FORMCHECKBOX Yes FORMCHECKBOX No FORMCHECKBOX UnknownIf Yes, were implications confirmed: FORMCHECKBOX Yes FORMCHECKBOX NoMutation Information (HUGO Mutation Nomenclature)cDNA: (if relevant, data to be entered by site)mRNA: (if relevant, data to be entered by site)Protein: (if relevant, data to be entered by site)General InstructionsThis CRF includes data typically recorded for mutation analysis. Specific InstructionsPlease see the Data Dictionary for definitions for each of the data elements included in this CRF Module.Mutation Information (HUGO Mutation Nomenclature): Please visit the HUGO Mutation Nomenclature website at Human Genome Variation Society *Element is classified as Supplemental – Highly Recommended ................
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