ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.10024G>T (p.Glu3342Ter) (rs28897761)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129731 SCV000184536 likely benign Hereditary cancer-predisposing syndrome 2017-07-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other strong data supporting benign classification
Counsyl RCV000112832 SCV000489129 uncertain significance Breast-ovarian cancer, familial 2 2016-08-22 criteria provided, single submitter clinical testing
GeneDx RCV000422123 SCV000515387 likely benign not specified 2017-08-17 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000588538 SCV000694488 uncertain significance not provided 2016-08-15 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.10024G>T (p.Glu3342X) variant causes a nonsense mutation in the last exon of BRCA2 located in the C terminus, removing the last 76 amino acids (amino acid total: 3418). The variant of interest was not observed in controls (ExAC, 1000 Gs, or ESP), nor has it been reported in affected individuals via publications. A publication, Spain_1999 references the fact that the variant of interest is located further downstream than the known common benign polymorphism, Lys3326X, and therefore suggests the variant of interest to be unlikely cancer associated. Multiple clinical laboratories/databases cite the variant with conflicting classifications, "uncertain significance" or "likely benign." Therefore, until additional information becomes available, the variant of interest has been classified as a "Variant of Uncertain Significance (VUS)."
Breast Cancer Information Core (BIC) (BRCA2) RCV000112832 SCV000145743 uncertain significance Breast-ovarian cancer, familial 2 1999-04-12 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.