ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.1892dupT (p.Ser632Lysfs) (rs80357932)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
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) RCV000111721 SCV000299663 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Invitae RCV000047622 SCV000075635 pathogenic Hereditary breast and ovarian cancer syndrome 2015-07-16 criteria provided, single submitter clinical testing This sequence change inserts 1 nucleotide in exon 10 of the BRCA1 mRNA (c.1892dupT), causing a frameshift at codon 632. This creates a premature translational stop signal (p.Ser632Lysfs*4) and is expected to result in an absent or disrupted protein product. Truncating variants in BRCA1 are known to be pathogenic (PMID: 20104584). This particular truncation has been reported in the literature in a family affected with breast and ovarian cancer (PMID: 10866029). This variant is also known as c.2012insT in the literature. For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000213327 SCV000275161 pathogenic Hereditary cancer-predisposing syndrome 2015-04-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000111721 SCV000325167 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111721 SCV000144233 pathogenic Breast-ovarian cancer, familial 1 2002-05-29 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.