ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7466A>G (p.Asp2489Gly) (rs80358970)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131769 SCV000186815 uncertain significance Hereditary cancer-predisposing syndrome 2018-04-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Breast Cancer Information Core (BIC) (BRCA2) RCV000031680 SCV000147097 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Color RCV000131769 SCV000683875 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-06 criteria provided, single submitter clinical testing
Counsyl RCV000031680 SCV000785210 uncertain significance Breast-ovarian cancer, familial 2 2017-06-02 criteria provided, single submitter clinical testing
GeneDx RCV000212259 SCV000210425 uncertain significance not provided 2017-01-17 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.7466A>G at the cDNA level, p.Asp2489Gly (D2489G) at the protein level, and results in the change of an Aspartic Acid to a Glycine (GAT>GGT). Using alternate nomenclature, this variant would be defined as BRCA2 7694A>G. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA2 Asp2489Gly was not observed at a significant allele frequency in the NHLBI Exome Sequencing Project. Since Aspartic Acid and Glycine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. BRCA2 Asp2489Gly occurs at a position that is not conserved and is located in the DNA and FANCD2 binding domains (Yang 2002, Uniprot). In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available evidence, it is unclear whether BRCA2 Asp2489Gly is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Sharing Clinical Reports Project (SCRP) RCV000031680 SCV000054287 uncertain significance Breast-ovarian cancer, familial 2 2012-02-09 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.