ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.3080G>C (p.Ser1027Thr) (rs80357386)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000587381 SCV000698993 uncertain significance not provided 2017-04-20 criteria provided, single submitter clinical testing Variant summary: The BRCA1 c.3080G>C (p.Ser1027Thr) variant involves the alteration of a non-conserved nucleotide and 2/4 in silico tools (SNPsandGO not captured due to low reliability index)predict a benign outcome, although these predictions have yet to be functionally assessed. This variant is absent in 121356 control chromosomes (ExAC). The variant of interest has not, to our knowledge, been reported in affected individuals via publications. A database cites the variant with a classification of "UV." 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000587381 SCV000887658 uncertain significance not provided 2018-04-05 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764121 SCV000895094 uncertain significance Familial cancer of breast; Breast-ovarian cancer, familial 1; Pancreatic cancer 4; FANCONI ANEMIA, COMPLEMENTATION GROUP S 2018-10-31 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.