Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Human Genome Sequencing Center Clinical Lab, |
RCV001258100 | SCV001434945 | likely pathogenic | Pancreatic cancer, susceptibility to, 3; Breast cancer, susceptibility to | 2018-10-12 | criteria provided, single submitter | clinical testing | This c.2974_2795del (p.Met992Aspfs*18) frameshift variant in the PALB2 gene is predicted to introduce a premature translation termination codon. This variant has never been reported before. Mono-allelic loss of function variants in the PALB2 gene is known to be associated with susceptibility to breast cancer and pancreatic cancer. Bi-allelic loss of function variants in this gene are associated with Fanconi anemia, complementation group N (OMIM 610832). Therefore, this c.2974_2795del (p.Met992Aspfs*18) variant in the PALB2 gene is classified as likely pathogenic. |
Ambry Genetics | RCV002436980 | SCV002751350 | pathogenic | Hereditary cancer-predisposing syndrome | 2016-03-01 | criteria provided, single submitter | clinical testing | The c.2974_2975delAT pathogenic mutation, located in coding exon 9 of the PALB2 gene, results from a deletion of two nucleotides between nucleotide positions 2974 and 2975, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294). |
Myriad Genetics, |
RCV003449818 | SCV004189494 | pathogenic | Familial cancer of breast | 2023-09-14 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |