ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5243G>A (p.Gly1748Asp) (rs397509243)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164686 SCV000215353 likely pathogenic Hereditary cancer-predisposing syndrome 2018-04-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other data supporting pathogenic classification,Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,Deficient protein function in appropriate functional assay(s),Structural Evidence
GeneDx RCV000508679 SCV000210208 likely pathogenic not provided 2018-05-09 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.5243G>A at the cDNA level, p.Gly1748Asp (G1748D) at the protein level, and results in the change of a Glycine to an Aspartic Acid (GGT>GAT). Using alternate nomenclature, this variant was previously published as BRCA1 5362G>A. This variant was observed in at least one breast/ovarian cancer family (Lalloo 2006, Judkins 2005). Transcription activation assays have demonstrated this variant to result in reduced transcription activity, compared to wild type (Woods 2016, Carvalho 2014). BRCA1 Gly1748Asp was not observed in large population cohorts (Lek 2016). This variant is located in a region known to interact with multiple proteins (Paul 2004). In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect. Based on currently available evidence, we consider BRCA1 Gly1748Asp to be a likely pathogenic variant.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000508679 SCV000605909 likely pathogenic not provided 2017-02-07 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077610 SCV000109413 uncertain significance Breast-ovarian cancer, familial 1 2012-05-09 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.