ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.2183G>A (p.Arg728Lys) (rs80357335)

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
Ambry Genetics RCV000129301 SCV000184062 uncertain significance Hereditary cancer-predisposing syndrome 2017-06-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
GeneDx RCV000658781 SCV000293348 uncertain significance not provided 2015-10-31 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.2183G>A at the cDNA level, p.Arg728Lys (R728K) at the protein level, and results in the change of an Arginine to a Lysine (AGA>AAA). Using alternate nomenclature, this variant would be defined as BRCA1 2302G>A. This variant has been predicted likely neutral based on interspecific sequence variation (Abkevich 2004). BRCA1 Arg728Lys was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. Since Arginine and Lysine share similar properties, this is considered a conservative amino acid substitution. BRCA1 Arg728Lys occurs at a position that is not conserved and is located in the DNA binding domain (Narod 2004). In silico analyses predict that this variant is unlikely to alter protein structure or function. Based on currently available evidence, it is unclear whether BRCA1 Arg728Lys is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Color RCV000129301 SCV000683017 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000658781 SCV000780576 uncertain significance not provided 2018-01-01 criteria provided, single submitter clinical testing
Counsyl RCV000077510 SCV000785012 uncertain significance Breast-ovarian cancer, familial 1 2017-03-15 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077510 SCV000109310 uncertain significance Breast-ovarian cancer, familial 1 2012-06-12 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000077510 SCV000144323 uncertain significance Breast-ovarian cancer, familial 1 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.