ACMG Classification System for Variants in BRCA1/2
ACMG Classification System is a software tool based on ACMG guideline, aiming to standardize and automate clinical explanation of genetic variants in coding regions of BRCA1/2.
Reference to this page for more information about ACMG.
Please enter the variants with format of Chromosome:Start-End:Ref:Alt while -End is optional. One variant, one line. And up to 100 lines are supported. Chromosome can only be one of 1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, X, Y, MT. Prefix of `chr` is allowed. Case insensitive. Allowed symbols for Ref and Alt are A, T, C, G, N and -. Case insensitive. Examples: 13:32890598-32890598:A:G, 13:32890601:C:-, chr13:32890612-32890614:caa:c.
Please enter the number part of a rs ID. The number must not begin with zero. Examples: 397507820, 80358836, 746566500, 770479195.
Allowed symbols for cDNA change field are letters, digits and underscore. Examples for cDNA change with BRCA1 gene: T2413C, 2409_2410C, 2409delT, 2405_2406del, 2378dupA, 2379delinsAG.
Allowed symbols for amino acid change field are letters, digits, underscore and star. Examples for amino acid change with BRCA1 gene: E797K, S767*, A794Gfs*7, Q667_L668insVSLLFL.
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