ClinVar Miner

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

dbSNP: rs80357173
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Total submissions: 7
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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 ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health 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, susceptibility to, 1 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000709486 SCV002416494 likely benign Hereditary breast ovarian cancer syndrome 2023-12-22 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine, University of Washington RCV000572214 SCV003851182 likely benign Hereditary cancer-predisposing syndrome 2023-03-23 criteria provided, single submitter curation Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).
Breast Cancer Information Core (BIC) (BRCA1) RCV000111652 SCV000144139 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2004-02-20 no assertion criteria provided clinical testing

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