Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001235199 | SCV001407875 | pathogenic | Hereditary breast ovarian cancer syndrome | 2022-06-11 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 961501). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. This sequence change creates a premature translational stop signal (p.Val2151Lysfs*18) 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). |
Ambry Genetics | RCV002366043 | SCV002659626 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-02-05 | criteria provided, single submitter | clinical testing | The c.6449_6450dupAA pathogenic mutation, located in coding exon 10 of the BRCA2 gene, results from a duplication of AA at nucleotide position 6449, causing a translational frameshift with a predicted alternate stop codon (p.V2151Kfs*18). 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. |