ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.2485C>T (p.Gln829Ter)

dbSNP: rs1966855759
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001048640 SCV001212654 pathogenic Familial cancer of breast 2022-12-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 845553). This variant has not been reported in the literature in individuals affected with PALB2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln829*) 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).
Ambry Genetics RCV003283899 SCV004007894 pathogenic Hereditary cancer-predisposing syndrome 2023-04-18 criteria provided, single submitter clinical testing The p.Q829* pathogenic mutation (also known as c.2485C>T), located in coding exon 5 of the PALB2 gene, results from a C to T substitution at nucleotide position 2485. This changes the amino acid from a glutamine to a stop codon within coding exon 5. This variant has been identified in multiple breast cancer cohorts (Hayat M et al. JCO Glob Oncol, 2021 Sep;7:1462-1471; Park JS et al. Cancer Res Treat, 2022 Oct;54:1099-1110). 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. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). As such, this alteration is interpreted as a disease-causing mutation.
Myriad Genetics, Inc. RCV001048640 SCV004189403 pathogenic Familial cancer of breast 2023-09-12 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.