Table 6.

Notable BAP1 Pathogenic Variants

Reference SequencesDNA Nucleotide
Change		Predicted Protein
Change		Comment [Reference]
NM_004656​.4
NP_004647​.1 		c.1717delCp.Leu573TrpfsTer3Founder variant identified in several families from United States w/common ancestor [Carbone et al 2015, Walpole et al 2018, Boru et al 2019]
c.1780_1781insTp.Gly594ValfsTer49Founder variant in Finland
c.178C>Tp.Arg60TerObserved in multiple subjects from different populations; proven through haplotype studies to have arisen independently multiple times [Walpole et al 2018]

Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​.hgvs.org). See Quick Reference for an explanation of nomenclature.

From: BAP1 Tumor Predisposition Syndrome

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