ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5108A>G (p.Tyr1703Cys) (rs876660071)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000218067 SCV000277183 likely pathogenic Hereditary cancer-predisposing syndrome 2015-07-14 criteria provided, single submitter clinical testing Rarity in general population databases (dbsnp, esp, 1000 genomes);In silico models in agreement (deleterious) and/or completely conserved position in appropriate species;Deficient protein function in appropriate functional assay(s);Structural Evidence
Invitae RCV000796831 SCV000936360 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-11-18 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 1703 of the BRCA1 protein (p.Tyr1703Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual with a personal or family history of breast and/or ovarian cancer (PMID: 25948282). ClinVar contains an entry for this variant (Variation ID: 232915). This variant has been reported to affect BRCA1 protein function (PMID: 30209399). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Mendelics RCV000989872 SCV001140487 uncertain significance Breast-ovarian cancer, familial 1 2019-05-28 criteria provided, single submitter clinical testing
Brotman Baty Institute,University of Washington RCV000989872 SCV001244104 not provided Breast-ovarian cancer, familial 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.