ClinVar Miner

Submissions for variant NM_024675.3(PALB2):c.1676_1677delinsG (p.Gln559fs) (rs515726073)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478479 SCV000566669 pathogenic not provided 2017-04-17 criteria provided, single submitter clinical testing This combined deletion and insertion is denoted PALB2 c.1676_1677delAAinsG at the cDNA level and p.Gln559ArgfsX2 (Q559RfsX2) at the protein level. The surrounding sequence is ATTC[delAA][insG]GTGA. The variant causes a frameshift, which changes a Glutamine to an Arginine at codon 559, and creates a premature stop codon at position 2 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. PALB2 c.1676_1677delAAinsG has been observed in the homozygous state in an individual with Fanconi anemia (Serra 2012) and in the compound heterozygous state with a variant leading to an in-frame deletion in two siblings with non-Hodgkin lymphoma and features of Fanconi anemia (Byrd 2016). We consider this variant to be pathogenic.
Ambry Genetics RCV000572212 SCV000670638 pathogenic Hereditary cancer-predisposing syndrome 2018-12-31 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Color RCV000572212 SCV000685894 pathogenic Hereditary cancer-predisposing syndrome 2020-01-15 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000478479 SCV000889580 pathogenic not provided 2018-05-31 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001030245 SCV001193137 pathogenic Fanconi anemia, complementation group N 2019-05-13 no assertion criteria provided curation Curators: Marc Tischkowitz, Arleen D. Auerbach. Submitter to LOVD: Marc Tischkowitz.

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.