ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.5692GAT[1] (p.Asp1899del)

dbSNP: rs2072535984
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
Color Diagnostics, LLC DBA Color Health RCV001187047 SCV001353706 uncertain significance Hereditary cancer-predisposing syndrome 2019-07-22 criteria provided, single submitter clinical testing This variant causes an in-frame deletion of one amino acid at codon 1899 of the BRCA2 gene. Computational splicing tools suggest that this variant may not impact RNA splicing. To our knowledge, functional assays have not been performed for this variant nor has this variant been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001361081 SCV001557044 uncertain significance Hereditary breast ovarian cancer syndrome 2022-08-10 criteria provided, single submitter clinical testing This variant, c.5695_5697del, results in the deletion of 1 amino acid(s) of the BRCA2 protein (p.Asp1899del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 925219). This variant has been observed in individual(s) with clinical features of BRCA2-related conditions (PMID: 21520333).
Ambry Genetics RCV001187047 SCV005028314 uncertain significance Hereditary cancer-predisposing syndrome 2023-12-01 criteria provided, single submitter clinical testing The c.5695_5697delGAT variant (also known as p.D1899del) is located in coding exon 10 of the BRCA2 gene. This variant results from an in-frame GAT deletion at nucleotide positions 5695 to 5697. This results in the in-frame deletion of an aspartic acid at codon 1899. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). 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.