Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000531614 | SCV000635727 | likely pathogenic | Hereditary breast ovarian cancer syndrome | 2017-02-23 | criteria provided, single submitter | clinical testing | This sequence change affects a donor splice site in intron 24 of the BRCA2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with a BRCA2-related disease. In summary, donor and acceptor splice site variants are typically loss-of-function (PMID: 16199547), and loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic. |
| Counsyl | RCV000576796 | SCV000677861 | likely pathogenic | Breast-ovarian cancer, familial, susceptibility to, 2 | 2016-12-23 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002377050 | SCV002687637 | likely pathogenic | Hereditary cancer-predisposing syndrome | 2017-01-16 | criteria provided, single submitter | clinical testing | The c.9254_9256+11del14 intronic variant results from a deletion of a total of 14 nucleotides including the last three nucleotides within coding exon 23 and 11 nucleotides in the intron 23 splice donor site of the BRCA2 gene. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to abolish the native splice donor site; however, direct evidence is unavailable. Alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as likely pathogenic. |