ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.3069C>A (p.Asn1023Lys)

gnomAD frequency: 0.00002  dbSNP: rs759181823
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000459905 SCV000549532 uncertain significance Hereditary breast ovarian cancer syndrome 2023-07-30 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 BRCA2 protein function. ClinVar contains an entry for this variant (Variation ID: 409442). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. This variant is present in population databases (rs759181823, gnomAD 0.02%). This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 1023 of the BRCA2 protein (p.Asn1023Lys).
Counsyl RCV000662934 SCV000785890 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2018-01-02 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001191078 SCV001358752 uncertain significance Hereditary cancer-predisposing syndrome 2019-01-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV001191078 SCV002753846 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-11 criteria provided, single submitter clinical testing The p.N1023K variant (also known as c.3069C>A), located in coding exon 10 of the BRCA2 gene, results from a C to A substitution at nucleotide position 3069. The asparagine at codon 1023 is replaced by lysine, 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 RCV001191078 SCV003850354 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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