ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9501+1dup

dbSNP: rs2073025642
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
Color Diagnostics, LLC DBA Color Health RCV001180878 SCV001345929 likely pathogenic Hereditary cancer-predisposing syndrome 2022-03-09 criteria provided, single submitter clinical testing This variant causes a 1 nucleotide insertion at the +1 position of intron 25 of the BRCA2 gene. Splice site prediction tools suggest that this variant may have a significant impact on RNA splicing. Although this prediction has not been confirmed in published RNA studies, this variant is expected to result in an absent or disrupted protein product. This variant has not 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). Different variants affecting the same splice donor site, c.9501+1G>A and c.9501+1G>T, are known to be disease-causing (ClinVar variation ID: 52853, 267725). Loss of BRCA2 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Likely Pathogenic.

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.