ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2140A>G (p.Asn714Asp)

dbSNP: rs568312345
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001183207 SCV001348870 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV001183207 SCV002729255 uncertain significance Hereditary cancer-predisposing syndrome 2023-08-28 criteria provided, single submitter clinical testing The p.N714D variant (also known as c.2140A>G), located in coding exon 9 of the BRCA1 gene, results from an A to G substitution at nucleotide position 2140. The asparagine at codon 714 is replaced by aspartic acid, an amino acid with highly similar properties. 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002559826 SCV003004715 uncertain significance Hereditary breast ovarian cancer syndrome 2023-02-10 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 922899). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This variant is present in population databases (rs568312345, gnomAD 0.003%). This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 714 of the BRCA1 protein (p.Asn714Asp). 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. 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 RCV001183207 SCV003849468 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).

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