ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3135T>G (p.Asn1045Lys)

dbSNP: rs2053637366
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001226829 SCV001399156 uncertain significance Hereditary breast ovarian cancer syndrome 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces asparagine with lysine at codon 1045 of the BRCA1 protein (p.Asn1045Lys). The asparagine residue is moderately conserved and there is a moderate physicochemical difference between asparagine and lysine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
University of Washington Department of Laboratory Medicine, University of Washington RCV003158556 SCV003847455 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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