Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Clinical Cancer Genetics and Family Consultants, |
RCV000416925 | SCV000803287 | likely pathogenic | Hereditary breast ovarian cancer syndrome | 2015-12-12 | criteria provided, single submitter | clinical testing | The mutation was observed in one patient with high grade DCIS, Her2 positive and strong family history (mother with bilateral breast cancer and maternal aunt with breast cancer and thyroid cancer). The same mutation has been described as a leaky splicing variant of the RAD51B (PMID:26898890). First time in Greece, it has been observed among 164 patients with breast and ovarian cancers tested in the our clinic. We consider this variant to be likely pathogenic. |
| Gene |
RCV000708628 | SCV000821777 | likely pathogenic | Hereditary cancer-predisposing syndrome | 2020-01-01 | criteria provided, single submitter | clinical testing | This variant is change of the last base in exon 2 of the RAD51B gene, which is conserved in the human genome and other genomes. Although it does not lead to an amino acid change, it is expected that this alteration causes improper sRNA splicing and deletion of the entire exon. Thus the protein produced by one allele is expected to be truncated and non-functional. This variant has been described in the international literature in individuals undergoing panel testing for hereditary syndrome (PMID: 31159747). The mutation database ClinVar contains entries for this variant (Variation ID: 221910). |
| Center for Genomic Medicine, |
RCV005230089 | SCV005872844 | likely pathogenic | not provided | 2025-03-04 | criteria provided, single submitter | clinical testing | |
| Dr. |
RCV000416925 | SCV000262586 | likely pathogenic | Hereditary breast ovarian cancer syndrome | 2015-12-22 | no assertion criteria provided | research | Sequenced patient with familial breast cancer |