Table 5.

Notable POT1 Variants

Reference SequencesDNA Nucleotide
Change		Predicted
Protein Change		Comment [Reference]
NM_015450​.2
NP_056265​.2 		c.349C>Tp.Arg117CysReported in 3 families w/LFL & familial cardiac angiosarcoma [Calvete et al 2015]
c.809G>Ap.Ser270AsnFounder variant in Romagna region of Italy [Shi et al 2014]
c.1127A>Gp.Gln376ArgA 3.6-fold ↑ risk for CLL reported for individuals w/this variant [Speedy et al 2016]

CLL = chronic lymphocytic leukemia; LFL = Li-Fraumeni-like

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: POT1 Tumor Predisposition

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