ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.88A>C (p.Asn30His)

gnomAD frequency: 0.00001  dbSNP: rs1253463092
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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 RCV000574736 SCV000673132 uncertain significance Hereditary cancer-predisposing syndrome 2024-07-14 criteria provided, single submitter clinical testing The p.N30H variant (also known as c.88A>C), located in coding exon 2 of the BRCA2 gene, results from an A to C substitution at nucleotide position 88. The asparagine at codon 30 is replaced by histidine, an amino acid with similar properties. This amino acid position is 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 RCV001338114 SCV001531754 uncertain significance Hereditary breast ovarian cancer syndrome 2025-01-23 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with histidine, which is basic and polar, at codon 30 of the BRCA2 protein (p.Asn30His). This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. ClinVar contains an entry for this variant (Variation ID: 485443). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt BRCA2 protein function with a negative predictive value of 95%. 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.
Genetic Services Laboratory, University of Chicago RCV001821685 SCV002067694 uncertain significance not specified 2018-12-11 criteria provided, single submitter clinical testing

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