ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9899C>T (p.Pro3300Leu)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004520372 SCV005032082 uncertain significance Hereditary cancer-predisposing syndrome 2024-01-05 criteria provided, single submitter clinical testing The p.P3300L variant (also known as c.9899C>T), located in coding exon 26 of the BRCA2 gene, results from a C to T substitution at nucleotide position 9899. The proline at codon 3300 is replaced by leucine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. 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.

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.