ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3230G>A (p.Gly1077Glu)

dbSNP: rs1567792424
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000702858 SCV000831730 uncertain significance Hereditary breast ovarian cancer syndrome 2023-03-09 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 579547). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 1077 of the BRCA1 protein (p.Gly1077Glu).
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758808 SCV000887662 uncertain significance not provided 2017-11-14 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000773902 SCV000907602 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-09 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000773902 SCV002538191 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-19 criteria provided, single submitter curation
Ambry Genetics RCV000773902 SCV002609506 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-02 criteria provided, single submitter clinical testing The p.G1077E variant (also known as c.3230G>A), located in coding exon 9 of the BRCA1 gene, results from a G to A substitution at nucleotide position 3230. The glycine at codon 1077 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is not well 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.
University of Washington Department of Laboratory Medicine, University of Washington RCV000773902 SCV003850698 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).
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003493714 SCV004242826 likely benign not specified 2024-02-06 criteria provided, single submitter clinical testing

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