ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.212-10del

dbSNP: rs766487430
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001084305 SCV000252859 benign Familial cancer of breast 2021-12-17 criteria provided, single submitter clinical testing
GeneDx RCV000587569 SCV000565340 likely benign not provided 2021-02-07 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000580912 SCV000685919 likely benign Hereditary cancer-predisposing syndrome 2016-04-04 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000587569 SCV000699554 uncertain significance not provided 2017-05-26 criteria provided, single submitter clinical testing Variant summary: The PALB2 c.212-10delT variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing and ESE finder predicts no alterations to ESE sites at the locus. However, these predictions have yet to be confirmed by functional studies. This variant was found in the large control database ExAC in 3 of 64868 control chromosomes from all ethnicities, but was predominantly observed in the African subpopulation at a frequency of 0.000315 (2/6352). This frequency is about 2 times the estimated maximal expected allele frequency of a pathogenic PALB2 variant (0.0001563), suggesting this may be a benign polymorphism found primarily in the populations of African origin. In addition, two clinical diagnostic laboratories have classified this variant as likely benign or benign. To our knowledge, the variant of interest has not been reported in affected individuals via publications, nor has it been evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS)-possibly benign until additional information becomes available.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000587569 SCV001469592 uncertain significance not provided 2020-07-13 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV001818473 SCV002066877 likely benign not specified 2021-02-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000587569 SCV002506124 likely benign not provided 2022-01-04 criteria provided, single submitter clinical testing
Sema4,Sema4 RCV000580912 SCV002530671 likely benign Hereditary cancer-predisposing syndrome 2021-11-27 criteria provided, single submitter curation

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.