ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.6841+5G>A

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003164987 SCV003859078 uncertain significance Hereditary cancer-predisposing syndrome 2022-12-21 criteria provided, single submitter clinical testing The c.6841+5G>A intronic variant results from a G to A substitution 5 nucleotides after coding exon 10 in the BRCA2 gene. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may weaken the native splice donor site; however, direct evidence is insufficient at this time (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Mendelics RCV004698881 SCV005200746 uncertain significance Hereditary cancer 2024-08-12 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.