Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
University of Washington Department of Laboratory Medicine, |
RCV000210140 | SCV000266104 | pathogenic | Hereditary cancer-predisposing syndrome | 2015-11-20 | criteria provided, single submitter | clinical testing | |
Cancer Genetics Laboratory, |
RCV000114525 | SCV000267968 | likely pathogenic | Familial cancer of breast | 2015-06-01 | criteria provided, single submitter | case-control | |
Ambry Genetics | RCV000210140 | SCV002737112 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-01-24 | criteria provided, single submitter | clinical testing | The c.2391delA pathogenic mutation, located in coding exon 5 of the PALB2 gene, results from a deletion of one nucleotide at nucleotide position 2391, causing a translational frameshift with a predicted alternate stop codon (p.Q797Hfs*54). This mutation (designated as c.2390del) was detected in 1/347 Australian triple-negative breast cancer patients (Wong-Brown MW et al. Int. J. Cancer, 2014 Jan;134:301-5). It was also reported in a patient with breast cancer and a family history of melanoma, non-Hodgkin's lymphoma, bladder cancer, and breast cancer (Thompson ER et al. Breast Cancer Res., 2015 Aug;17:111). In addition to the clinical data presented in the literature, 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. |
Myriad Genetics, |
RCV000114525 | SCV004187422 | pathogenic | Familial cancer of breast | 2023-09-12 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |
Leiden Open Variation Database | RCV000114525 | SCV001193222 | pathogenic | Familial cancer of breast | 2019-05-13 | no assertion criteria provided | curation | Curators: Marc Tischkowitz, Arleen D. Auerbach. Submitter to LOVD: Marc Tischkowitz. |