ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7043A>G (p.Asn2348Ser)

dbSNP: rs747817752
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001025964 SCV001188254 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-30 criteria provided, single submitter clinical testing The p.N2348S variant (also known as c.7043A>G), located in coding exon 13 of the BRCA2 gene, results from an A to G substitution at nucleotide position 7043. The asparagine at codon 2348 is replaced by serine, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001216628 SCV001388433 uncertain significance Hereditary breast ovarian cancer syndrome 2019-06-05 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 2348 of the BRCA2 protein (p.Asn2348Ser). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and serine. This variant is present in population databases (rs747817752, ExAC 0.01%). This variant has not been reported in the literature in individuals with BRCA2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003493780 SCV004243057 likely benign not specified 2025-03-04 criteria provided, single submitter clinical testing

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