ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4337T>C (p.Ile1446Thr) (rs1555283730)

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
Invitae RCV000637694 SCV000759165 uncertain significance Hereditary breast and ovarian cancer syndrome 2017-11-14 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 1446 of the BRCA2 protein (p.Ile1446Thr). The isoleucine residue is weakly conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with breast cancer (PMID: 22729890). In an experimental study measuring chromosomal damage upon irradiation of patient lymphocytes, cells with this variant showed comparable results to wild-type control cells (PMID: 22729890). 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758895 SCV000887813 uncertain significance not provided 2018-06-18 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.