ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.192T>G (p.Cys64Trp)

dbSNP: rs587781632
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Molecular Diagnosis of Cancer, West China Hospital, Sichuan University RCV000240686 SCV000265872 likely pathogenic Breast neoplasm 2015-11-01 criteria provided, single submitter research
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000258255 SCV000325185 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2015-10-02 criteria provided, single submitter clinical testing
Invitae RCV000687511 SCV000815083 pathogenic Hereditary breast ovarian cancer syndrome 2021-04-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Cys64 amino acid residue in BRCA1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 15131401, 22034289, 23397983, 18489799, 19949876, 25085752, 19287957, 24516540, 23867111, 23161852, 12915465, 23161852, 23867111, 7894491, 21042765). This suggests that this residue is clinically-significant, and that variants that disrupt this residue are likely to be disease-causing. This variant affects the highly conserved Cys64 residue within the N-terminal RING domain of the BRCA1 protein (PMID: 22843421). This variant has been reported to affect BRCA1 protein function (PMID: 30209399). This variant has been observed in an individual affected with breast cancer (PMID: 27257965), and in a family with breast cancer (PMID: 29446198). ClinVar contains an entry for this variant (Variation ID: 224427). This variant is not present in population databases (ExAC no frequency). This sequence change replaces cysteine with tryptophan at codon 64 of the BRCA1 protein (p.Cys64Trp). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tryptophan.
Mendelics RCV000687511 SCV000839311 likely pathogenic Hereditary breast ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Mendelics RCV000258255 SCV001140642 likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2019-05-28 criteria provided, single submitter clinical testing
Brotman Baty Institute, University of Washington RCV000258255 SCV001242533 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro

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.