The Genome Build used for reference, following GRCh build versions e.g. 'GRCh 37'. Version number must be included if a versioned release of a primary build was used.

The chromosome containing the genetic finding - values should be 1-23, X, Y, mitochondrial, viral, bacteria.

The genomic reference sequence identifier is included, to support testing using alternative reference sequences.

Nucleotide location for start of genomic finding on the positive (+) genomic strand.

Nucleotide location for end of genomic finding on the positive (+) genomic strand.

Nucleotide(s) from genomic start to genomic stop on the positive (+) strand of the genomic reference sequence. Use '-' for insertions.

Oserved nucleotides from genomic start to genomic stop on the positive (+) genomic strand. Use '-' for delections.

HGNC gene symbol and identifier from HUGO Gene Nomenclature Committee at: http://www.genenames.org/.

Reference identifier for cDNA transcript, with version, from NCBI's RefSeq or ENSEMBL.

cDNA variant following HGVS nomenclature on the given TranscriptReferenceSequenceId.

Identifier for variant. If a germline variant, ClinVar or dbSNP identifier should be used. If ClinVar is used, the identifier should be prefixed with 'ClinVar:' (e.g. ClinVar:17661). dbSNP ids are start with 'rs' (rs28897672) and COSMIC id's start with 'COSM' (e.g. COSM12979). Note, dbSNP id's are not unique to a variant but a location, so nucleotide change and germline/somatic classification are needed to resolve. If a somatic variant, COSMIC identifier should be used, unless in ClinVar then either maybe used.

Details of exonic location of variant (e.g. Exon 1).

Codified type for associated DNA Sequence Variation. DNA Sequence Variations use the HGVS notation which implies the DNA Sequence Variation Type, but the concurrent use of this code will allow a standard and explicit type for technical and display convenience. LOINC Answer List values 48019-4 or Sequence Ontology vaues.

Reference identifier for protein transcript, with version, from NCBI's RefSeq or ENSEMBL.

Protein variant following HGVS nomenclature on the given ProteinReferenceSequenceId.

Type of variation expressed using Sequence Ontology or LOINC answer list 48006-1.

Common name for variant or gene allele.

The genomic class of the variant: Germline for inherited genome, somatic for cancer genome (e.g. DNA from tumor cells), and prenatal for fetal genome. Associated with LOINC answer list: 48002-0.

Level of occurance of the DNA variation in relation to the genomic context.

Supports testing of human, virus, or bacteria.

A sequence of of base lengths and the associated operation, used to indicate which bases align (either a match/mismatch) with the reference, are deleted from the reference, and are insertions that are not in the reference. string of observed nucleotides. Observed nucleotides matching the reference are in capital letters. Observed nucleotides not matching the reference are in lower case letters. Use '-' a dash for deleted/missing nucleotides in the observed sequence. Allowable characters are A,T,C,G, a,t,c,g and -.

Used to denote the condition context for genetic testing, which may influence reported variants and interpretation for large genomic testing panels e.g. lung cancer or familial breast cancer.

Genetics Observation of Somatic Variant in Lung Cancer

Genetics Observation of Germline BRCA1 Variant