Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Human Genome Sequencing Center Clinical Lab, |
RCV000709718 | SCV000839942 | pathogenic | Familial cancer of breast | 2017-06-02 | criteria provided, single submitter | clinical testing | The c.1263del (p.Ser422Valfs*15) variant in the CHEK2 gene has been detected in a case control study for breast cancer [PMID 21244692]. This variant was detected in 1/1,303 cases and none of the 1,109 unaffected female controls. This variant was also detected in an individual with prostate cancer and two family members [PMID 24556621]. However, the segregation was not clear: one sibling was affected with prostate cancer but was negative for the variant. This variant has been reported in six individuals from the ExAC database (http://exac.broadinstitute.org/variant/22-29091226-TA-T). This one bp deletion in exon 12 results in a frameshift and the creation of a premature stop codon. This variant is expected to result in a loss of function of the protein and thus is classified as pathogenic. |