ClinVar Miner

Submissions for variant NM_007298.3(BRCA1):c.787+1524_787+1530del (rs1060502354)

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
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000661321 SCV000783588 pathogenic Breast-ovarian cancer, familial 1 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Invitae RCV000464144 SCV000549392 pathogenic Hereditary breast and ovarian cancer syndrome 2016-05-20 criteria provided, single submitter clinical testing This sequence change deletes 7 nucleotides from exon 10 of the BRCA1 mRNA (c.2311_2317delTTGGTAC), causing a frameshift at codon 773. This creates a premature translational stop signal (p.Pro773Leufs*17) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000735503 SCV000863641 pathogenic Breast and/or ovarian cancer 2016-05-05 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.