Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000772890 | SCV000906272 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-10-20 | criteria provided, single submitter | clinical testing | This variant changes 1 nucleotide in exon 2 of the PALB2 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in an individual affected with breast and bladder cancer in the literature (PMID: 24136930). This variant has been identified in 1/251470 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Loss of PALB2 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. |
Invitae | RCV001030115 | SCV002229392 | pathogenic | Familial cancer of breast | 2022-05-26 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Lys25*) in the PALB2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PALB2 are known to be pathogenic (PMID: 17200668, 17200671, 17200672, 24136930, 25099575). This variant is present in population databases (no rsID available, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with breast and bladder cancer (PMID: 24136930). ClinVar contains an entry for this variant (Variation ID: 628424). For these reasons, this variant has been classified as Pathogenic. |
Myriad Genetics, |
RCV001030115 | SCV004189345 | pathogenic | Familial cancer of breast | 2023-09-05 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation. |
Leiden Open Variation Database | RCV001030115 | SCV001192917 | pathogenic | Familial cancer of breast | 2019-05-13 | no assertion criteria provided | curation | Curators: Marc Tischkowitz, Arleen D. Auerbach. Submitter to LOVD: Marc Tischkowitz. |
BRCAlab, |
RCV003155956 | SCV002588981 | pathogenic | Hereditary breast ovarian cancer syndrome | 2022-08-26 | no assertion criteria provided | clinical testing |