Table 8.

Notable PIGN Pathogenic Variants

Reference SequencesDNA Nucleotide
Change		Predicted Protein
Change		Comment [Reference]
NM_176787​.5
NP_789744​.1 		c.421dupp.Ile141AsnfsTer10Homozygous [Alessandri et al 2018]
c.694A>Tp.Lys232TerHomozygous [McInerney-Leo et al 2016]
NM_176787​.5 c.1574+1G>A--Homozygous [Brady et al 2014]
c.1674+1G>C--Compound heterozygous 1 [McInerney-Leo et al 2016]
NM_176787​.5
NP_789744​.1 		c.1966C>Tp.Glu656TerCompound heterozygous 1 [McInerney-Leo et al 2016]
GRCh37 Chr18:59819870–59824934 deletion 2See footnote 3.Homozygous; likely founder effect in La Réunion & other Indian Ocean islands [Alessandri et al 2018]

Variants listed in the table have been provided by the author. 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.

c.[1966C>T]; [c.1674+1G>C]; designation for two variants on two alleles

2.

5.07-kb deletion with breakpoints in exon 5 and intron 7; precise breakpoints unknown (GRCh37/hg19). Using other reference sequences, the designations are GRCh38:Chr18:62152637-62157701 and NC_000018​.10:g.62152637_62157701del. Listed in ClinVar (VCV000446120​.1; accessed 10-4-22).

3.

Splicing of deleted allele cannot be predicted; it is predicted to span at least 90 amino acid residues [Alessandri et al 2018].

From: Fryns Syndrome

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