ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.4969A>T (p.Asn1657Tyr)

dbSNP: rs587781599
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001337591 SCV001531197 uncertain significance Hereditary breast ovarian cancer syndrome 2020-10-27 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. This variant has not been reported in the literature in individuals with BRCA2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with tyrosine at codon 1657 of the BRCA2 protein (p.Asn1657Tyr). The asparagine residue is moderately conserved and there is a large physicochemical difference between asparagine and tyrosine.
Mendelics RCV002246315 SCV002517977 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine, University of Washington RCV003158757 SCV003852245 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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