ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7976+5G>T (rs786201180)

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 RCV000582257 SCV000689085 likely pathogenic Hereditary cancer-predisposing syndrome 2018-09-02 criteria provided, single submitter clinical testing
Hereditary Cancer Genetics group,Vall d'Hebron Institute of Oncology RCV000537532 SCV000916369 pathogenic Hereditary breast and ovarian cancer syndrome 2019-03-01 no assertion criteria provided research
Invitae RCV000537532 SCV000635626 uncertain significance Hereditary breast and ovarian cancer syndrome 2017-03-02 criteria provided, single submitter clinical testing This sequence change falls in intron 17 of the BRCA2 gene. It does not directly change the encoded amino acid sequence of the BRCA2 protein, but it affects a nucleotide within the consensus splice site of the intron. 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. Nucleotide substitutions within the consensus splice site are relatively common causes of aberrant splicing (PMID: 17576681, 9536098) but according to multiple splice site algorithms this particular variant is not predicted to significantly affect splicing. In addition, an experimental study has shown that this variant does not affect splicing in vitro (PMID: 24123850). In summary, this is a novel intronic change that does not appear to affect splicing. It has been classified as a Variant of Uncertain Significance.

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.