ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7499G>A (p.Arg2500Lys)

dbSNP: rs80358976
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166203 SCV000216981 uncertain significance Hereditary cancer-predisposing syndrome 2024-06-25 criteria provided, single submitter clinical testing The p.R2500K variant (also known as c.7499G>A), located in coding exon 14 of the BRCA2 gene, results from a G to A substitution at nucleotide position 7499. The arginine at codon 2500 is replaced by lysine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and lysine is the reference amino acid in other 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000794184 SCV000933576 likely benign Hereditary breast ovarian cancer syndrome 2024-08-06 criteria provided, single submitter clinical testing
Mendelics RCV000989065 SCV001139182 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2019-05-28 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004804759 SCV004844416 uncertain significance BRCA2-related cancer predisposition 2024-03-24 criteria provided, single submitter clinical testing This missense variant replaces arginine with lysine at codon 2500 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.

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