ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1540C>A (p.Pro514Thr)

dbSNP: rs1555591584
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000571829 SCV000668471 uncertain significance Hereditary cancer-predisposing syndrome 2017-02-09 criteria provided, single submitter clinical testing The p.P514T variant (also known as c.1540C>A), located in coding exon 9 of the BRCA1 gene, results from a C to A substitution at nucleotide position 1540. The proline at codon 514 is replaced by threonine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV000792382 SCV000931678 uncertain significance Hereditary breast ovarian cancer syndrome 2018-09-25 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. ClinVar contains an entry for this variant (Variation ID: 482935). This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with threonine at codon 514 of the BRCA1 protein (p.Pro514Thr). The proline residue is highly conserved and there is a small physicochemical difference between proline and threonine.
University of Washington Department of Laboratory Medicine, University of Washington RCV000571829 SCV003851223 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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