Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001226711 | SCV001399034 | pathogenic | Hereditary breast ovarian cancer syndrome | 2019-11-01 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). This variant has not been reported in the literature in individuals with BRCA2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Cys1399*) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. |
| Ambry Genetics | RCV002327540 | SCV002626651 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-08-15 | criteria provided, single submitter | clinical testing | The p.C1399* variant (also known as c.4197T>A), located in coding exon 10 of the BRCA2 gene, results from a T to A substitution at nucleotide position 4197. This changes the amino acid from a cysteine to a stop codon within coding exon 10. 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. |