Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000111841 | SCV000299759 | 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 | RCV002453358 | SCV002738456 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-06-02 | criteria provided, single submitter | clinical testing | The c.2393delC pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 2393, causing a translational frameshift with a predicted alternate stop codon (p.P798Qfs*5). This mutation has been reported in a cohort of Danish BRCA1 and BRCA2 positive families (Thomassen M et al. Acta Oncol 2008 ; 47(4):772-7). 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. |
Breast Cancer Information Core |
RCV000111841 | SCV000144405 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2003-12-23 | no assertion criteria provided | clinical testing | |
BRCAlab, |
RCV000111841 | SCV004244094 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2020-03-02 | no assertion criteria provided | clinical testing |