Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV001015154 | SCV001175959 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-11-01 | criteria provided, single submitter | clinical testing | The c.2309_2313delTTTTA pathogenic mutation, located in coding exon 10 of the BRCA2 gene, results from a deletion of 5 nucleotides at nucleotide positions 2309 to 2313, causing a translational frameshift with a predicted alternate stop codon (p.I770Nfs*16). 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. |
| Invitae | RCV001065460 | SCV001230418 | pathogenic | Hereditary breast ovarian cancer syndrome | 2023-09-26 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ile770Asnfs*16) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA2 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 BRCA2-related conditions. ClinVar contains an entry for this variant (Variation ID: 821083). For these reasons, this variant has been classified as Pathogenic. |
| Baylor Genetics | RCV003473575 | SCV004212831 | likely pathogenic | Familial cancer of breast | 2022-03-13 | criteria provided, single submitter | clinical testing |