ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.4838C>T (p.Pro1613Leu)

gnomAD frequency: 0.00001  dbSNP: rs1360725610
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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 RCV000583819 SCV000688900 uncertain significance Hereditary cancer-predisposing syndrome 2023-12-05 criteria provided, single submitter clinical testing This missense variant replaces proline with leucine at codon 1613 of the BRCA2 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with BRCA2-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
University of Washington Department of Laboratory Medicine, University of Washington RCV000583819 SCV003852137 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).
All of Us Research Program, National Institutes of Health RCV004001322 SCV004845738 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2024-01-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000583819 SCV005548686 uncertain significance Hereditary cancer-predisposing syndrome 2024-08-06 criteria provided, single submitter clinical testing The p.P1613L variant (also known as c.4838C>T), located in coding exon 10 of the BRCA2 gene, results from a C to T substitution at nucleotide position 4838. The proline at codon 1613 is replaced by leucine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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