ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5213G>A (p.Gly1738Glu) (rs80357450)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breast Cancer Information Core (BIC) (BRCA1) RCV000077609 SCV000145397 uncertain significance Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000077609 SCV000326221 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Department of Medical Genetics,Oslo University Hospital RCV000077609 SCV000564324 likely pathogenic Breast-ovarian cancer, familial 1 2015-07-01 criteria provided, single submitter clinical testing
Invitae RCV000048864 SCV000076877 pathogenic Hereditary breast and ovarian cancer syndrome 2016-11-06 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 1738 of the BRCA1 protein (p.Gly1738Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has been reported in several individuals and families affected with breast cancer and ovarian cancer (PMID: 18465347, 23113073, 21918854). Experimental studies have shown that this missense change impairs the stability and transcription activity of the BRCA2 protein (PMID: 11157798, 20516115, 10811118). A different missense substitution at this codon (p.Gly1738Arg) has been reported to be deleterious (PMID: 21990134). This indicates that the glycine residue is important for BRCA1 protein function. For these reasons, this variant has been classified as Pathogenic.
Sharing Clinical Reports Project (SCRP) RCV000077609 SCV000109412 likely pathogenic Breast-ovarian cancer, familial 1 2012-08-01 no assertion criteria provided 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.