ClinVar Miner

Submissions for variant NM_004656.4(BAP1):c.1268C>A (p.Thr423Lys) (rs115109161)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000228893 SCV000288737 benign Tumor susceptibility linked to germline BAP1 mutations 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000228893 SCV000445471 benign Tumor susceptibility linked to germline BAP1 mutations 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Ambry Genetics RCV000563367 SCV000664594 likely benign Hereditary cancer-predisposing syndrome 2018-08-16 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
Color RCV000563367 SCV000682561 likely benign Hereditary cancer-predisposing syndrome 2015-03-23 criteria provided, single submitter clinical testing
GeneDx RCV000844571 SCV000986622 likely benign not provided 2018-04-25 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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