Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV003988307 | SCV004804012 | pathogenic | Malignant tumor of breast | 2024-01-30 | criteria provided, single submitter | clinical testing | Variant summary: The variant involves the deletion of exon 8 in the PALB2 gene. A presumed nomenclature of c.(2748+1_2749-1)_(2834+1_2835-1)del has been designated for the purposes of this classification. This Copy Number Variant (CNV) is expected to alter the reading frame and predicted to result in a truncation or absence of the encoded protein due to nonsense mediated decay (NMD). The variant was absent in 120378 control chromosomes in the gnomAD database (Structural Variants v4.0 dataset). c.(2748+1_2749-1)_(2834+1_2835-1)del has been reported in the literature in individuals affected with Breast Cancer (e.g. Yang_2020, Park_2022). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 31841383, 34793666). ClinVar contains an entry for this variant (Variation ID: 584173). Based on the evidence outlined above, the variant was classified as pathogenic. |