Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000205373 | SCV000260451 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-12-03 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 220136). This premature translational stop signal has been observed in individual(s) with undergoing testing for personal or family history of breast and/or ovarian cancer (PMID: 31159747). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu754Metfs*9) in the RAD50 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RAD50 are known to be pathogenic (PMID: 19409520). |
Gene |
RCV000205373 | SCV000821774 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-01-01 | criteria provided, single submitter | clinical testing | This variant is a seven base pair deletion from exon 14 of the RAD50 mRNA, causing a frameshift at codon 754 and this creates a premature translational stop signal. This is expected to result in an absent or disrupted protein product. Truncating variants in RAD50 are known to be pathogenic (PMID:19409520, 16385572). This variant has been described in the international literature in an individual undergoing panel testing for hereditary syndrome (PMID: 31159747).The mutation database ClinVar contains entries for this variant (Variation ID:220136). |