ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5777G>A (p.Ser1926Asn) (rs869320795)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000570052 SCV000661324 uncertain significance Hereditary cancer-predisposing syndrome 2016-07-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Color RCV000570052 SCV000688948 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-27 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589776 SCV000694901 uncertain significance not provided 2017-02-16 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.5777G>A (p.Ser1926Asn) variant involves the alteration of a non-conserved nucleotide. 4/4 in silico tools predict a benign outcome for this variant (SNPs&GO not captured due to low reliability index). This variant is absent in 121042 control chromosomes. One clinical diagnostic laboratory classified this variant as likely benign, without evidence for independent evaluation. The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.
Michigan Medical Genetics Laboratories,University of Michigan RCV000211032 SCV000267787 likely benign Breast-ovarian cancer, familial 2 2016-04-21 criteria provided, single submitter 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.