ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.257T>C (p.Leu86Pro) (rs572782576)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000766592 SCV000210444 uncertain significance not provided 2019-11-07 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Also known as 485T>C; This variant is associated with the following publications: (PMID: 22752604, 24728327)
Invitae RCV000234582 SCV000283191 likely benign Hereditary breast and ovarian cancer syndrome 2020-11-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV000564505 SCV000668776 uncertain significance Hereditary cancer-predisposing syndrome 2018-06-11 criteria provided, single submitter clinical testing The p.L86P variant (also known as c.257T>C), located in coding exon 2 of the BRCA2 gene, results from a T to C substitution at nucleotide position 257. The leucine at codon 86 is replaced by proline, an amino acid with similar properties. This alteration was detected in 1/51 relatives of Indian early-onset breast cancer patients (Juwle A et al. Med. Oncol., 2012 Dec;29:3272-81). This alteration was also detected in a cohort of 681 ancestrally diverse, healthy subjects under the age of 50 (Bodian DL et al. PLoS ONE, 2014 Apr;9:e94554). This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Counsyl RCV000662463 SCV000784944 uncertain significance Breast-ovarian cancer, familial 2 2017-02-14 criteria provided, single submitter clinical testing
Color Health, Inc RCV000564505 SCV000911014 likely benign Hereditary cancer-predisposing syndrome 2017-02-21 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000766592 SCV001715036 uncertain significance not provided 2019-07-11 criteria provided, single submitter clinical testing
ITMI RCV000120383 SCV000084535 not provided not specified 2013-09-19 no assertion provided reference population

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.