ACMG Classification System is a software tool based on 2015 ACMG guideline specifically for germline variants in herediatary cancer, aiming to aid clinical explanation of germline variants in genes related with cancer.
Refer to this page for more information about 2015 ACMG guideline.
Disclaimer: the explanation provided by this system can only be used as an aid information, which need be taken with caution.
Format: Chromosome:Position:Ref>Alt
Notes: one variant per line, case insensitive, maximum 10 lines.
Example1: 1:155209747:A>C
Format: the Number part of a dbSNP ID
Notes: the updated version is SNP150, maximum 10 lines.
Example1: 730881285
Format: gene symbol + transcript + cDNA change
Notes: please assure your format conform to HGVS standard, maximum 10 lines.
Examples for cDNA change with ATM: NM_000051,c.T6122C
Format: Refer to this page for detailed explanation of VCF file
Notes: the maximum size of VCF file is 10M;
Result will be returned in about 5-10 minutes.