Table 7.

Notable NBN Pathogenic Variants

Reference SequencesDNA Nucleotide Change
(Alias 1)		Predicted Protein ChangeComment [References]
NM_002485​.5
NP_002476​.2 		c.330T>Gp.Tyr110TerSee Genotype-Phenotype Correlations.
c.643C>Tp.Arg215TrpReported in MZ twins also heterozygous for c.657_661del5 w/more severe neurologic features but w/o cellular & radiation sensitivity [Seemanová et al 2006]
c.657_661delACAAA
(c.657_661del5; 657del5)		p.Lys219AsnfsTer16Slavic founder variant [Varon et al 1998]
c.741_742dupGG
(742insGG)		p.Glu248GlyfsTer5See Genotype-Phenotype Correlations.
c.1089C>Ap.Tyr363TerHomozygous in affected persons from 1 family w/features of atypical Fanconi anemia [Gennery et al 2005, New et al 2005]
c.1125G>Ap.Trp375TerSee Genotype-Phenotype Correlations.

MZ = monozygotic

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.

Variant designation that does not conform to current naming conventions

From: Nijmegen Breakage Syndrome

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