Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001218992 | SCV001390907 | pathogenic | Hereditary breast ovarian cancer syndrome | 2023-08-11 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu1295Cysfs*12) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 947848). For these reasons, this variant has been classified as Pathogenic. |
Ambry Genetics | RCV002356934 | SCV002619858 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-12-03 | criteria provided, single submitter | clinical testing | The c.3882delC pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 3882, causing a translational frameshift with a predicted alternate stop codon (p.L1295Cfs*12). 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. |