ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.1866G>A (p.Ala622=) (rs1800064)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000495392 SCV000578333 likely benign Breast-ovarian cancer, familial 1 2017-06-29 reviewed by expert panel curation Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/).
GeneDx RCV000159873 SCV000209933 benign not specified 2014-09-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000167406 SCV000218261 likely benign Hereditary cancer-predisposing syndrome 2014-12-17 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724275 SCV000224995 uncertain significance not provided 2014-09-09 criteria provided, single submitter clinical testing
Invitae RCV000196820 SCV000253496 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-26 criteria provided, single submitter clinical testing
Color RCV000167406 SCV000682992 likely benign Hereditary cancer-predisposing syndrome 2016-08-13 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000724275 SCV000888854 likely benign not provided 2018-03-26 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000159873 SCV000916762 likely benign not specified 2018-06-18 criteria provided, single submitter clinical testing Variant summary: BRCA1 c.1866G>A alters a non-conserved nucleotide resulting in a synonymous change. 5/5 computational tools predict no significant impact on normal splicing. A functional study, Anczukow_2008, supports these predictions. The variant allele was found at a frequency of 1.6e-05 in 246026 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. The variant, c.1866G>A, has been reported in the literature in individuals affected with Hereditary Breast and Ovarian Cancer (Caux-Moncoutier_2011, de Juan Jimenez_2012, Judkins_2005, Shattuck-Eidens_1997). Three ClinVar submissions from clinical diagnostic laboratories (evaluation after 2014) cites the variant as likely benign. Based on the evidence outlined above, the variant was classified as likely benign.

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.