ClinVar Miner

Submissions for variant NM_004656.4(BAP1):c.1512C>G (p.Asn504Lys)

gnomAD frequency: 0.00001  dbSNP: rs1228626983
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001184191 SCV001350110 uncertain significance Hereditary cancer-predisposing syndrome 2023-06-30 criteria provided, single submitter clinical testing This missense variant replaces asparagine with lysine at codon 504 of the BAP1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer 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.
Ambry Genetics RCV001184191 SCV002708550 uncertain significance Hereditary cancer-predisposing syndrome 2022-08-03 criteria provided, single submitter clinical testing The p.N504K variant (also known as c.1512C>G), located in coding exon 13 of the BAP1 gene, results from a C to G substitution at nucleotide position 1512. The asparagine at codon 504 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003473723 SCV004213231 uncertain significance BAP1-related tumor predisposition syndrome 2023-08-11 criteria provided, single submitter clinical testing

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