ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.2713C>A (p.Gln905Lys)

dbSNP: rs1555459939
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000539422 SCV000633368 uncertain significance Familial cancer of breast 2023-07-03 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with PALB2-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt PALB2 protein function. ClinVar contains an entry for this variant (Variation ID: 460955). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamine, which is neutral and polar, with lysine, which is basic and polar, at codon 905 of the PALB2 protein (p.Gln905Lys).
Ambry Genetics RCV003159786 SCV003867718 uncertain significance Hereditary cancer-predisposing syndrome 2023-03-05 criteria provided, single submitter clinical testing The p.Q905K variant (also known as c.2713C>A), located in coding exon 7 of the PALB2 gene, results from a C to A substitution at nucleotide position 2713. The glutamine at codon 905 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV000539422 SCV005053870 uncertain significance Familial cancer of breast 2024-03-08 criteria provided, single submitter clinical testing

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.