Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV002275346 | SCV002563158 | pathogenic | not provided | 2022-07-01 | criteria provided, single submitter | clinical testing | BRCA2: PVS1, PM2 |
Ambry Genetics | RCV002384384 | SCV002672916 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-11-30 | criteria provided, single submitter | clinical testing | The c.728delA pathogenic mutation, located in coding exon 8 of the BRCA2 gene, results from a deletion of one nucleotide at nucleotide position 728, causing a translational frameshift with a predicted alternate stop codon (p.N243Mfs*8). This alteration was identified in a large, worldwide study of BRCA1/2 mutation positive families (Rebbeck TR et al. Hum Mutat, 2018 05;39:593-620). 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. |
Genomic Center, |
RCV001310068 | SCV001499591 | pathogenic | Familial cancer of breast | no assertion criteria provided | case-control |