ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4076A>G (p.Gln1359Arg)

dbSNP: rs1567789002
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002037142 SCV002111253 uncertain significance Hereditary breast ovarian cancer syndrome 2021-04-14 criteria provided, single submitter clinical testing Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA1 protein function. This variant has not been reported in the literature in individuals with BRCA1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with arginine at codon 1359 of the BRCA1 protein (p.Gln1359Arg). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and arginine. 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.
University of Washington Department of Laboratory Medicine, University of Washington RCV003158971 SCV003849682 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).
Ambry Genetics RCV003158971 SCV005547517 uncertain significance Hereditary cancer-predisposing syndrome 2024-11-20 criteria provided, single submitter clinical testing The p.Q1359R variant (also known as c.4076A>G), located in coding exon 9 of the BRCA1 gene, results from an A to G substitution at nucleotide position 4076. The glutamine at codon 1359 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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