ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.5757G>T (p.Lys1919Asn)

dbSNP: rs1566233164
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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 RCV000773451 SCV000907145 uncertain significance Hereditary cancer-predisposing syndrome 2019-01-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001216131 SCV001387908 uncertain significance Hereditary breast ovarian cancer syndrome 2022-02-17 criteria provided, single submitter clinical testing 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 lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 1919 of the BRCA2 protein (p.Lys1919Asn). ClinVar contains an entry for this variant (Variation ID: 628788). 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.
Ambry Genetics RCV000773451 SCV002651702 uncertain significance Hereditary cancer-predisposing syndrome 2021-10-14 criteria provided, single submitter clinical testing The p.K1919N variant (also known as c.5757G>T), located in coding exon 10 of the BRCA2 gene, results from a G to T substitution at nucleotide position 5757. The lysine at codon 1919 is replaced by asparagine, 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 RCV000773451 SCV003849081 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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