Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000166223 | SCV000186089 | pathogenic | Hereditary cancer-predisposing syndrome | 2013-02-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000166223 | SCV000217002 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-02-08 | criteria provided, single submitter | clinical testing | The c.653_654delAG pathogenic mutation, located in coding exon 4 of the RAD51C gene, results from a deletion of two nucleotides between nucleotide positions 653 and 654, causing a translational frameshift with a predicted alternate stop codon (p.E218Vfs*33). This alteration has been observed in multiple individuals and families with high risk breast and ovarian cancer (Song H et al. J. Clin. Oncol. 2015 Sep;33(26):2901-7; Maxwell KN et al. Am. J. Hum. Genet. 2016 May;98:801-817; Suszynska M et al. J Ovarian Res, 2020 May;13:50). In addition, this mutation is also designated as 651_652delAG in published literature. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
Ce |
RCV000996589 | SCV001151382 | likely pathogenic | not provided | 2016-05-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001385150 | SCV001584910 | pathogenic | Fanconi anemia complementation group O | 2023-02-22 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu218Valfs*33) in the RAD51C gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RAD51C are known to be pathogenic (PMID: 20400964, 21990120, 24800917). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with ovarian cancer (PMID: 26261251). For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV002498821 | SCV002807061 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 3; Fanconi anemia complementation group O | 2021-08-09 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003462204 | SCV004208046 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 3 | 2022-01-10 | criteria provided, single submitter | clinical testing |