ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3475dup (p.Ile1159fs) (rs1555587638)

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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000588330 SCV000699036 likely pathogenic Hereditary breast and ovarian cancer syndrome 2016-12-05 criteria provided, single submitter clinical testing Variant summary: The BRCA1 c.3475dupA (p.Ile1159Asnfs) variant results in a premature termination codon, predicted to cause a truncated or absent BRCA1 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g. c.3481_3491delGAAGATACTAG (p.Glu1161fs), c.3485delA (p.Asp1162fs), and c.3582_3589delCCATACAC (p.His1195fs). The variant of interest has not been observed in controls, nor has it been, to our knowledge, reported in affected individuals via publications and/or clinical diagnostic laboratores/databases. Therefore, until additional information becomes available, due to the nature of this variant causes a known mechanism of disease, the variant of interest has been classified as "Likely Pathogenic."
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759523 SCV000888893 likely pathogenic not provided 2018-03-31 criteria provided, single submitter clinical testing
Invitae RCV000588330 SCV001394309 pathogenic Hereditary breast and ovarian cancer syndrome 2019-06-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile1159Asnfs*6) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 496368). Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.

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.