ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4717del (p.Asp1573fs)

dbSNP: rs2052422166
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
Invitae RCV001039418 SCV001202948 pathogenic Hereditary breast ovarian cancer syndrome 2023-09-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 837970). This premature translational stop signal has been observed in individual(s) with breast and/or ovarian cancer (PMID: 29470806). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asp1573Metfs*28) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584).
Molecular Endocrinology Laboratory, Christian Medical College RCV001772221 SCV002003975 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 criteria provided, single submitter clinical testing
Baylor Genetics RCV001772221 SCV004212697 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2023-10-22 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.