Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000111926 | SCV000299820 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2016-09-08 | reviewed by expert panel | curation | Variant allele predicted to encode a truncated non-functional protein. |
Ambry Genetics | RCV002453362 | SCV002738683 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-01-15 | criteria provided, single submitter | clinical testing | The c.2726delA pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 2726, causing a translational frameshift with a predicted alternate stop codon (p.N909Ifs*91). This mutation has been detected in two Dutch breast and/or ovarian cancer families (van der Hout AH et al. Hum Mutat. 2006 Jul;27(7):654-66). 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. |
Breast Cancer Information Core |
RCV000111926 | SCV000144527 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2001-10-29 | no assertion criteria provided | clinical testing |