ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1601A>G (p.Gln534Arg) (rs80357173)

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
Ambry Genetics RCV000572214 SCV000660964 uncertain significance Hereditary cancer-predisposing syndrome 2020-03-29 criteria provided, single submitter clinical testing The p.Q534R variant (also known as c.1601A>G), located in coding exon 9 of the BRCA1 gene, results from an A to G substitution at nucleotide position 1601. The glutamine at codon 534 is replaced by arginine, an amino acid with highly similar properties. This alteration has been reported in a Brazilian cohort of patients considered to be at high risk for hereditary breast and ovarian cancer (HBOC) syndrome; it was identified in one patient who was diagnosed with breast cancer at age 51 who also had five family members diagnosed with breast cancer (Fernandes GC et al. Oncotarget. 2016 Dec;7:80465-80481). This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Mendelics RCV000709486 SCV000839283 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Color Health, Inc RCV000572214 SCV000909374 likely benign Hereditary cancer-predisposing syndrome 2018-02-01 criteria provided, single submitter clinical testing
Mendelics RCV000111652 SCV001140599 uncertain significance Breast-ovarian cancer, familial 1 2019-05-28 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111652 SCV000144139 uncertain significance Breast-ovarian cancer, familial 1 2004-02-20 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.