Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001015159 | SCV001175966 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-05-26 | criteria provided, single submitter | clinical testing | The c.230delG pathogenic mutation, located in coding exon 2 of the RAD51C gene, results from a deletion of one nucleotide at nucleotide position 230, causing a translational frameshift with a predicted alternate stop codon (p.G77Vfs*24). This variant has been reported in a patient with high-grade serous ovarian cancer and metachronous breast cancer; her ovarian tumor showed loss of the wild type allele (Thompson ER et al. Hum. Mutat., 2012 Jan;33:95-9). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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. |
Center for Genomic Medicine, |
RCV003493412 | SCV004242883 | pathogenic | not provided | 2024-02-06 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000024265 | SCV000045556 | risk factor | Breast-ovarian cancer, familial, susceptibility to, 3 | 2012-01-01 | no assertion criteria provided | literature only | |
Leiden Open Variation Database | RCV001195013 | SCV001365251 | pathogenic | Neoplasm of ovary | 2020-02-28 | no assertion criteria provided | curation | Curator: Arleen D. Auerbach. Submitter to LOVD: Ian Campbell. |
BRCAlab, |
RCV000024265 | SCV002589009 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 3 | 2022-08-26 | no assertion criteria provided | clinical testing |