Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000693969 | SCV000822393 | pathogenic | Hereditary breast ovarian cancer syndrome | 2023-08-07 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 572560). This variant is also known as c.2998_2999insT. This premature translational stop signal has been observed in individual(s) with BRCA2-related conditions (PMID: 34413315). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser1001Phefs*8) 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). |
| Baylor Genetics | RCV004569319 | SCV005059158 | pathogenic | Familial cancer of breast | 2023-12-08 | criteria provided, single submitter | clinical testing | |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV004997171 | SCV005624379 | pathogenic | not provided | 2024-10-15 | criteria provided, single submitter | clinical testing | The BRCA2 c.3001dup (p.Ser1001Phefs*8) variant alters the translational reading frame of the BRCA2 mRNA and causes the premature termination of BRCA2 protein synthesis. This variant has been reported in the published literature in individuals with ovarian cancer (PMID: 37664050 (2023)) and an individual with a personal or family history of breast and/or ovarian cancer (PMID: 34413315 (2021)). This variant has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Based on the available information, this variant is classified as pathogenic. |