ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8411C>T (p.Pro2804Leu)

dbSNP: rs876658705
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000464375 SCV000549772 uncertain significance Hereditary breast ovarian cancer syndrome 2021-06-23 criteria provided, single submitter clinical testing In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a BRCA2-related disease. This sequence change replaces proline with leucine at codon 2804 of the BRCA2 protein (p.Pro2804Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine.
Color Diagnostics, LLC DBA Color Health RCV000775812 SCV000910273 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-05 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003237869 SCV002010308 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000775812 SCV005548652 uncertain significance Hereditary cancer-predisposing syndrome 2024-07-11 criteria provided, single submitter clinical testing The p.P2804L variant (also known as c.8411C>T), located in coding exon 18 of the BRCA2 gene, results from a C to T substitution at nucleotide position 8411. The proline at codon 2804 is replaced by leucine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant 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.