Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Pathology and Laboratory Medicine, |
RCV001354466 | SCV001549091 | likely pathogenic | Malignant tumor of breast | no assertion criteria provided | clinical testing | The PALB2 c.3202-?_3561+?del variant (chr:16 g.23614779_23619332del GRCh37) results in an in-frame deletion of exons 12-13, although the precise breakpoints of this deletion were not determined nor were the effects of this variant on the resulting mRNA or protein product determined. The variant was identified in a patient with breast and pancreas cancer (at ages 47 and 61 respectively) and whose mother died of pancreas cancer at age 83 (Tischkowitz 2009). The variant was not identified in dbSNP, ClinVar, LOVD 3.0, the Exome Aggregation Consortium (August 8th 2016) or the Genome Aggregation Database (Feb 27, 2017). In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time although we would lean towards a more pathogenic role for this variant. This variant is classified as likely pathogenic. |