Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Human Genome Sequencing Center Clinical Lab, |
RCV000709717 | SCV000839941 | pathogenic | Familial cancer of breast | 2017-05-25 | criteria provided, single submitter | clinical testing | The c.622del (p.Asp208Ilefs*9) variant in the CHEK2 gene has not been observed in our patient cohort but has been reported in two individuals of East Asian descent from the ExAC database (http://exac.broadinstitute.org/variant/22-29115443-TC-T). This one bp deletion in exon 5 results in a frameshift and the creation of a premature stop codon. This variant is thus expected to result in a loss of function of the protein. This variant is thus classified as pathogenic. |