ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7273A>G (p.Asn2425Asp)

dbSNP: rs876658292
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000217666 SCV000273327 uncertain significance Hereditary cancer-predisposing syndrome 2024-09-22 criteria provided, single submitter clinical testing The p.N2425D variant (also known as c.7273A>G and c.7501A>G), located in coding exon 13 of the BRCA2 gene, results from an A to G substitution at nucleotide position 7273. The asparagine at codon 2425 is replaced by aspartic acid, an amino acid with highly 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.
Color Diagnostics, LLC DBA Color Health RCV000217666 SCV000905835 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001344077 SCV001538106 uncertain significance Hereditary breast ovarian cancer syndrome 2023-09-20 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 229947). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 2425 of the BRCA2 protein (p.Asn2425Asp). 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 BRCA2 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.
All of Us Research Program, National Institutes of Health RCV004804865 SCV005424580 uncertain significance BRCA2-related cancer predisposition 2024-05-14 criteria provided, single submitter clinical testing This missense variant replaces asparagine with aspartic acid at codon 2425 of the BRCA2 protein. Computational prediction suggests that this variant may not impact protein structure and function. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with BRCA2-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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