ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3852T>G (p.Ser1284Arg) (rs777895333)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000570596 SCV000668683 uncertain significance Hereditary cancer-predisposing syndrome 2016-07-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
GeneDx RCV000479311 SCV000568052 uncertain significance not provided 2016-06-08 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.3852T>G at the cDNA level, p.Ser1284Arg (S1284R) at the protein level, and results in the change of a Serine to an Arginine (AGT>AGG). Using alternate nomenclature, this variant would be defined as BRCA2 4080T>G. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA2 Ser1284Arg was not observed in approximately 6,400 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 Serine and Arginine differ in some properties, this is considered a semi-conservative amino acid substitution. BRCA2 Ser1284Arg occurs at a position that is not conserved and is located within the RAD51 interaction domain (Roy 2012). In silico analyses predict that this variant is unlikely to alter protein structure or function. Based on currently available evidence, it is unclear whether BRCA2 Ser1284Arg is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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.