ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5299_5307del (p.Lys1767_Asp1769del) (rs80359504)

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
Integrated Genetics/Laboratory Corporation of America RCV000780017 SCV000917015 uncertain significance not specified 2018-08-05 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.5299_5307delAAACTTGAT (p.Lys1767_Asp1769del) results in an in-frame deletion that is predicted to remove 3 amino acids in a non-repeat region from the encoded protein. This region is not located in any known doamin (InterPro). The variant allele was found at a frequency of 4.1e-06 in 245396 control chromosomes. c.5299_5307delAAACTTGAT has been reported in the literature in individuals affected with Hereditary Breast and Ovarian Cancer (Patmasiriwat_2002, Ng_2016). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic.
Breast Cancer Information Core (BIC) (BRCA2) RCV000113419 SCV000146595 uncertain significance Breast-ovarian cancer, familial 2 2002-06-27 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.