ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3479A>C (p.Lys1160Thr)

dbSNP: rs1597863410
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000824010 SCV000964885 uncertain significance Hereditary breast ovarian cancer syndrome 2018-10-04 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with BRCA1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with threonine at codon 1160 of the BRCA1 protein (p.Lys1160Thr). The lysine residue is moderately conserved and there is a moderate physicochemical difference between lysine and threonine.
University of Washington Department of Laboratory Medicine, University of Washington RCV003158254 SCV003846739 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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