CancerVar: Interpretation of Somatic variants

CancerVar is a bioinformatics software tool for clinical interpretation of somatic variants by evidence from AMP/ASCO/CAP/CGC 2017-2019 guideline. The input to CancerVar can be genomic coordinate,dbSNP ID, gene with cDNA change, gene with Protein change, while the output of CancerVar is the interpretation of variants as clinical significance: 'Tier I/Pathogenic: Variants of Strong Clinical Significance','Tier II/Likely Pathogenic: Variants of Potential Clinical Significance','Tier III: Variants of Unknown Clinical Significance' and 'Tier IV: Benign or Likely Benign Variants', together with detailed evidence.

This page is from RESTful for direct linking to specific variant

Re-Interpret your variant with position: 1:115256529 Ref:T Alt:C Gene: NRAS
The automated clinical interpretation is : Pathogenic with Score: 11 ,but you can manually adjust it by checking/unchecking the criteria below

The blue color represents the criteria that need user's knowledge/information.

CBP1 Therapeutic: FDA approved or investigational with strong evidence
CBP2 Diagnostic: In Professional guideline or reported evidence with consensus
CBP3 Prognostic: In Professional guideline or reported evidence with consensus
CBP4 Mutation type: Activating, LOF (missense, nonsense, indel, splicing), CNVs, fusions
CBP5 Variant frequencies:Mostly mosaic
CBP6 Potential germline: Mostly nonmosaic
CBP7 Population database: Absent or extremely low MAF
CBP8 Germline database: may be present in HGMD/ClinVar as pathogenic
CBP9 Somatic database: Most likely present in COSMIC, ICGC,My Cancer Genome, TCGA
CBP10 Predictive Mostly damaging: SIFT, PolyPhen2,MutationAssessor,MetaSVM,MetaLR,FATHMM,GERP++_RS
CBP11 Pathway involvement: Disease-associated pathways or pathogenic pathways
CBP12 Publications: functional study, population study, other
CBP13 Additional: user specified

Weight: Strong: Grade 3;     Moderate: Grade 2;     Supporting: Grade 1;     No: Grade 0;     Negative/Benign: Grade -1;