Table 4.

Notable NTHL1 Pathogenic Variants

Reference SequencesDNA Nucleotide ChangePredicted Protein ChangeComment [Reference]
NM_002528​.6
NP​_002519 		c.268C>Tp.Gln90TerFounder/recurrent variant 1 [Weren et al 2018, Grolleman et al 2019]
c.235_236insGp.Ala79GlyfsTer2
c.390>Ap.Tyr130Ter
c.545G>Ap.Trp182Ter
NM_002528​.6 c.550-1G>ALoss splice donor site
NM_002528​.6
NP​_002519 		c.709+1G>Ap.Gly201_Ile236del
c.733dupp.Ile245AsnfsTer28
c.806G>Ap.Trp269Ter
c.859C>Tp.Gln287Ter

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.

1.

This variant is common in the Dutch population, but has also been observed in affected individuals from different ethnic groups, suggesting that there may be multiple independent founders. Fifteen reported families have been homozygous for this variant [Chubb et al 2016, Belhadj et al 2017, Fostira et al 2018, Altaraihi et al 2019, Grolleman et al 2019, Groves et al 2019]

From: NTHL1 Tumor Syndrome

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