ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5418A>C (p.Glu1806Asp) (rs34351119)

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 RCV000573439 SCV000666127 uncertain significance Hereditary cancer-predisposing syndrome 2017-01-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
GeneDx RCV000160089 SCV000210353 uncertain significance not provided 2014-02-27 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.5418A>C at the cDNA level, p.Glu1806Asp (E1806D) at the protein level, and results in the change of a Glutamic Acid to an Aspartic Acid (GAA>GAC). This variant, also denoted BRCA2 5646A>C using alternate nomenclature, has been reported in an early onset breast cancer family of African American descent (Nanda 2005). BRCA2 Glu1806Asp was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Since Glutamic Acid and Aspartic Acid share similar properties, this is considered a conservative amino acid substitution and is unlikely to affect protein integrity. BRCA2 Glu1806Asp occurs at a position that is moderately conserved across species and is not located in a known functional domain (UniProt). In silico analyses predict that this variant is unlikely to alter protein structure or function. Based on currently available information, it is unclear whether BRCA2 Glu1806Asp is pathogenic or benign. 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.